בדיקות גנטיות באופן פרטי
מרכז רפואי תל אביב מדיקל קליניק עוסק שנים בנושא שירות גנטי לכלל אזרחי מדינת ישראל באופן פרטי. המרכז שלנו פועל בשיתוף פעולה עם כלל מרכזים רפואיים אשר עוסקים בפיענוח וטיפול מחלות גנטיות החל מה עובר ועד מטופלים מבוגרים. תחום גנטי מאוד מורכב ולא תמיד יודע לספק תשובות לכן אנו פועלים להיות חלק מהקהילה עולמית אשר יודעת לשלב ידע מכל קצוות העולם עם מומחים מכל נקודה בעולם כדי לתת את מיטב השירות ותשובות למחלות הכי מורכבות. השירות יינתן באופן פרטי.
התחומי פעילות:
- אבחון גנטי תרום לידתי
- אבחון גנטי לילדים ומבוגרים במגוון תחומי התמחות: אונקו-גנטיקה, נוירוגנטיקה, אנדוגנטיקה, נפרוגנטיקה, אופטוגנטיקה וקרדיוגנטיקה, מרפאת גושה.
| Type | Name / Description | Gene | Technology | Tat | Contact |
|---|---|---|---|---|---|
| NGS Gene Panel | Abnormal Genitalia/ Disorders of Sex Development | AMH, AMHR2, ANOS1, AR, ARX, AT … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Adams-Oliver Syndrome | ARHGAP31, DLL4, DOCK6, EOGT, K … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Albinism | AP3B1, AP3D1, BLOC1S3, BLOC1S6 … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | ALS and Motor neuron disease | AARS1,ALS2,ANG,ANXA11,AR,ARHGE … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Anemia | ABCB7, ADAMTS13, AK1, ALAS2, A … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Aorta | ABCC6, ABL1, ACTA2, ADAMTS10, … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Aortopathy | ACTA2 , CBS , COL3A1, COL5A1, … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Arrhythmia | ABCC9, ACTN2, AKAP9, ANK2, BAG … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) | ACTN2, BAG3, CDH2, CTNNA3, DES … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Arthrogryposis | ACTA1, ADGRG6, AGRN, BIN1, CAC … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Ataxia | AARS2, ABCA2, ABCB7, ABCD1, AB … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Atypical Hemolytic uremic syndrome (aHUS) | ADAMTS13, APLN*, C3, CD46, CD5 … View more | TWIST/CES | 8 Weeks | |
| NGS Gene Panel | Autoimmunity | ACP5, ADA2, ADAR, AICDA, AIRE, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Autoinflammatory Syndrome | ACP5, ADA, ADA2, ADAM17, ADAR, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Bartter Syndrome | AP2S1*, ATP6V1B1, BSND, CA2, C … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Bone Marrow Failure | ACD, ACTB, AK2, ANKRD26, AP3B1 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Brugada | CACNA1C, CACNB2, HCN4, KCNH2, … View more | CES | 8 Weeks | |
| NGS Gene Panel | C3 glomerulopathy | C3, CD46, CFB, CFH, CFHR1, CFH … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Cadasil | ABCC6, ABO, ACTA2, ADA2*, CACN … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | CAKUT | ACE, ACTA2, ACTG2, AGT, AGTR1, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Cancer – Comprehensive | AIP, ALK, APC, ATM, AXIN2, BAP … View more | CES | 8 Weeks | |
| NGS Gene Panel | Cardiomyopathy | A2ML1, AARS2, ABCC6, ABCC9, AC … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Cataract | ABCA3, ABCB6, ABHD12, ADAMTS18 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) | ANK2, CALM1, CALM2, CALM3, CAS … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Cholestasis | ABCB11, ABCB4, ABCC2, AKR1D1, … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Chronic Progressive External Ophthalmoplegia (CPEO) | DGUOK, DNA2*, MGME1*, OPA1, PO … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Coloboma | ABCB6, ADAMTS18, ALDH1A3, BCOR … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Combined Pituitary Hormone Deficiency (CPHD) | GHR, GLI2, HESX1, LHX3, LHX4, … View more | CES | 8 Weeks | |
| NGS Gene Panel | Comprehensive Growth Disorders & Skeletal Dysplasias | ACAN, ACP5, ACTB, ACTG1, ACVR1 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Comprehensive Hearing Loss and Deafness | ABHD12, ABHD5, ACOX1, ACTB, AC … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Comprehensive Muscular Dystrophy and Myopathy | ACAD9, ACADL, ACADM, ACADVL, A … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Cone Rod Dystrophy | ABCA4, ADAM9, ADAMTS18, AIPL1, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Congenital Adrenal Hyperplasia (CAH) | ARMC5, CYP11A1, CYP11B1, CYP11 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Congenital Diarrhea | ADA, ADAM17, AICDA, ALG6, ALPI … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Ciliopathy | ACVR2B, ADAMTS9, AHI1, AK7, AL … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Congenital Hepatic Fibrosis | AHI1, ANKS6, ARL13B, ARL6, B9D … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Congenital Hypopituitarism | ARNT2*, DMXL2*, FGF8, FGFR1, G … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Congenital Myasthenic Syndromes (CMS) | AGRN, ALG14, ALG2, CHAT, CHRNA … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Connective Tissue | ABCC6, ABL1, ACTA2, ACVR1, ADA … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Cornelia de Lange | AFF4, ANKRD11, HDAC8, KMT2A, N … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Cystic Kidney Disease | ALG5, ALG8, ALG9, ANKS6, BICC1 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Diabetes – Monogenic – Comprehensive | ABCC8, APPL1, BLK, CEL, EIF2AK … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Dystonia | ACTB, ADAR, ADCY5, AFG3L2, ANO … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Ectodermal Dysplasia | TSPEAR ,BCS1L, CDH3, DSP, EDA, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Ectopia Lentis | AASS, ADAMTS10, ADAMTS17, ADAM … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Ehlers Danlos Panel | ABCC6, ADAMTS2, ALDH18A1, ATP6 … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Endocrine Cancer | AIP, APC, CDC73, CDKN1B, DICER … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Epidermolysis Bullosa | ATP2C1, CDSN*, COL17A1, COL7A1 … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Epidermolytic Palmoplantar Keratoderma | AAGAB, ALOX12B, ALOXE3, AQP5, … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Epilepsy – Comprehensive | AARS, ABAT, ABCA2, ABCD1, ACTL … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Epileptic Encephalopathy | ABAT, ACTL6B, ADAM22, ADAR, AD … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Familial Cerebral Small Vessel Disease | ABCC6, APP, ATP1A2, CACNA1A, C … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Familial Hemiplegic Migraine (Migraine) | ALDH7A1, ARX, ATP1A2, ATP1A3, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Familial Hypercholesterolemia | ABCA1, ABCG5, ABCG8, ALMS1, AP … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Fatty liver and Dyslipidemia | ABCA1, ABCA5, ABCA6, ABCA7, AB … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Focal Segmental Glomerulosclerosis (FSGS) | ACTN4, ALDH1A2, ANLN, APOL1, A … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Glaucoma | ADAMTS10, ASB10, BEST1, BMP4, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Glycogen Storage Disease – Comprehensive | AGL, ALDOA, ENO3*, EPM2A, FBP1 … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Hereditary Hemorrhagic Telangiectasia (HHT) | ACVRL1, ENG, EPHB4*, GDF2*, RA … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Hirschsprung Disease | BDNF, CELSR3*, EDN3, EDNRB, KI … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Hyperaldosteronism | CACNA1D, CACNA1H, CLCN2, KCNJ5 … View more | CES | 8 Weeks | |
| NGS Gene Panel | Hypertriglyceridemia | APOA5, APOC2 , APOC3 , APOE , … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Hypertrophic Cardiomyopathy (HCM) | A2ML1, ABCC9, ACAD9, ACADVL, A … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Hypoglycemia Hyperinsulinism and Ketone Metabolism | AAAS, ABCC8, ABCD1, ACAD9, ACA … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Hypoparathyroidism | AIRE, AP2S1*, CASR, CDC73, CDK … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Hypothyroidism and Resistance to Thyroid Hormone | CASR, DUOX2, DUOXA2, FOXE1, GC … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Ichthyosis | ABCA12, ABHD5, ALDH3A2, ALOX12 … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Inflammatory Bowel Disease | ADA, ADAM17, AICDA, BTK, CD3G, … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Intestinal Pseudo-Obstruction | ACTA2, ACTG2, CHD8, CHRM3, CHR … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Kabuki Syndrome | CHD7, EYA1, FLNB, IRF6, KDM6A, … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Kallmann Syndrome and Hypogonadotropic Hypogonadism (HH) | ANOS1 (KAL1), AXL, CCDC141*, C … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Leukodystrophy and Leukoencephalopathy | ABCD1, ADAR, AIFM1, AIMP1, ALD … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Limb Girdle Muscular Dystrophy (LGMD) | ACTA1, ANO5, ASAH1, ATP2A1, B3 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Lissencephaly | ACTB, ACTG1, ADGRG1, ARX, ATP6 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | LQT | AKAP9, ANK2, CACNA1C, CALM1, C … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Lymphedema | A2ML1 , ADAMTS3, BRAF, CALC … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Macrocephaly/Overgrowth Syndrome | ABCC9, AKT1, AKT2, AKT3, APC2� … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Marfan Syndrome | ABL1, ADAMTS10, ADAMTS17, ADAM … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Metabolic Myopathy and Rhabdomyolysis | ABHD5, ACAD9, ACADL, ACADM, AC … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Mitochondrial Myopathy – Nuclear DNA | POLG1, POLG2, RRM2B, TWNK, DNA … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | MODY | ABCC8, APPL1, BLK, CEL, EIF2AK … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Movement Disorders | ADAR, ADCY5, AFG3L2, ANO3, APT … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Neonatal Cholestasis | ABCB11, ABCB4, ABCC2, ABCD3, A … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Nephrolithiasis | ADCY10, AGXT, ALPL, APRT, ATP6 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Nephronophthisis | AHI1, ANKS6, CC2D2A, CEP164, C … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Nephrotic Syndrome | ACTN4, AMN, ANLN, APOL1, ARHGA … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Neurometabolic Disorders | ABCD1, ABCD4 , ACAT1 , AGA … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Neuromuscular Disorders | ACTA1, AGRN, ALG2, ANO5, ASAH1 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Neuro-Ophthalmology panel including Nystagmus | ACO2, AFG3L2, ANTXR1, APTX, AT … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Non-Syndromic Hearing Loss | ACTG1, ADCY1, ATP11A, ATP2B2, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | RASopathies (Noonan) | A2ML1, ACTB, ACTG1, BRAF, CBL, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Obesity | ADCY3, AFF4*, ALMS1, ARL6, BBI … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Oculomotor Apraxia | APTX, PIK3R5, PNKP, SETX | CES | 8 Weeks | |
| NGS Gene Panel | Oligodontia – Selective tooth agenesis | ANKRD11, ATP6V1B2, AXIN2, BCL1 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Pancreatitis – Chronic | APOA5, APOC2, CASR, CEK, CEL, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Panhypopituitarism | GLI2, HESX1, LHX3, LHX4, OTX2, … View more | CES | 8 Weeks | |
| NGS Gene Panel | Parkinson | ATP13A2, ATP1A3, ATP6AP2, ATP7 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Polydactyly – Comprehensive | AHI1, AKT3, ALX3, ALX4, ARHGAP … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Porokeratosis | FDPS, MVK, PMVK, MVD | TWIST | 8 Weeks | |
| NGS Gene Panel | Premature ovarian failure | BMP15, CYP17A1, CYP19A1, FOXL2 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Primary Ciliary Dyskinesia (PCD) | AK7, ARMC4, CCDC103, CCDC114, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Primary Immunodeficiency | ACD, ACP5, ACTB, ADA, ADA2, AD … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Pseudohypoaldosteronism | CUL3, HSD11B2, KCNJ5, KLHL3, N … View more | CES | 8 Weeks | |
| NGS Gene Panel | Pulmonary Artery Hypertension (PAH) | ABCC8, ACVRL1, AQP1, ATP13A3, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Pyruvate Dehydrogenase Deficiency(PDH) | DLAT, DLD, LIAS, MPC1, PDHA1, … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Renal Malformation | ACE, ACTG2*, AGT, BMP4, CDC5L* … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Renal Tubular Acidosis | ATP6V0A4, ATP6V1B1, CA2, SLC4A … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Retinal Dystrophy including Nystagmus | ABCA4, ABCC6, ABHD12, ACBD5, A … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Retinitis Pigmentosa | ABCA4,ABHD12,ADGRA3,ADIPOR1,AG … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Retinopathy and Optic Atrophy | ABCA4, ABCC6, ABHD12, ACBD5, A … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Robinow | DVL1, DVL3, ROR2, TWIST1, WNT5 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Septo-Optic Dysplasia (SOD) | GLI2, HESX1, OTX2, PAX6, PROP1 … View more | CES | 8 Weeks | |
| NGS Gene Panel | Short stature – Comprehensive | ACAN, ACTB, ACTG1, AMMECR1*, A … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Skeletal Dysplasia with Abnormal Mineralization | ALPL, ANKH, AP2S1, B4GALT7, CA … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Skeletal Dysplasias Core | ACAN, ACP5, ADAMTS10, ADAMTSL2 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Spherocytosis | ANK1, EPB41, EPB42, RHAG, SLC4 … View more | CES | 8 Weeks | |
| NGS Gene Panel | Spondylocostal Dysostosis | AGPS, ALPL, ARSE, BMP1, CEP120 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Stargardt | ABCA4, CNGB3, ELOVL4, PROM1, P … View more | CES | 8 Weeks | |
| NGS Gene Panel | Stickler | ACTA2, ADAMTS2, ALDH18A1, ATP6 … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Treacher Collins | DHODH, EFTUD2, EDNRA, POLR1A*, … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Usher syndrome | ABHD12, ADGRV1, ARSG*, CDH23, … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Vascular Malformations | ACVRL1, ANTXR1, BMPR2, CAV1, C … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Visceral Myopathy | ACTG2, MYH11, ACTA2, FKNA (FLN … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Waardenburg Syndrome | EDN3, EDNRB, KIT, MITF, PAX3, … View more | CES | 8 Weeks | |
| NGS Gene Panel | Xeroderma Pigmentosum | DDB2, ERCC1, ERCC2, ERCC3, ERC … View more | CES | 8 Weeks | |
| NGS Gene Panel | Acral Peeling Skin & Epidermolysis Bullosa | ATP2C1, CD151, CDSN, CHST8, CO … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Congenital Erythrocytosis / Familial Polycythemia | ANK1, BPGM, CALR, EGLN1, EPAS1 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Brain Malformations | ACTB, ACTG1, ADGRG1, ADNP, AHD … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Male and female infertility | ADGRG2, AIRE, AKR1C4, AMH, AMH … View more | 8 Weeks | ||
| NGS Gene Panel | Bronchiectasis | AK7, ARHGEF1, CCDC103, CCDC39, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Chorea | ADCY5, ARHGEF2, ATM, FRRS1L, F … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Dementia | ABCA7, ALS2, ANG, APOE, APP, C … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Multiple Meningioma | NF2, SMARCB1, SMARCE1, SUFU, B … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Osteogenesis Imperfecta and Bone Fragility. | ALPL,ANO5,ARCN1,ASCC1,B3GALT6, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Holoprosencephaly | CDON ,CENPF*, CNOT1*, DHCR7, D … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Microcephaly | AKT3, AMPD2, ANKLE2, AP4M1, AR … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Hydrocephalus | AKT3, AP1S2, CCDC88C, CCND2, C … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Multiple Epiphyseal Dysplasia (MED) | CANT1, COL2A1, COL9A1, COL9A2, … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Episodic Ataxia | CACNB4, FGF14, KCNA1, KCNQ2, S … View more | CES/TWIST | 8 Weeks | |
| NGS Gene Panel | MELANOMA | BAP1, BRCA1, BRCA2, CDK4, CDKN … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Skeletal Dysplasia and Disorders – Comprehensive | ACAN, ACP5, ACVR1, ADAMTS10, A … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Metabolic Newborn Disease | AAAS, ABCD1, ABCD3, ABCD4, ACA … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Dilated Cardiomyopathy (DCM) | ABCC6, ABCC9, ACADVL, ACTA1, A … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Coagulation Factor Deficiency and Hemophilia | F10, F11 ,F12 ,F13A1 ,F2 ,F5 , … View more | CES | 8 Weeks | |
| NGS Gene Panel | Neuronal Migration Disorder Panel including Periventricular Heterotopia | ACTB, ACTG1, ADGRG1, AKT3, ARF … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis (Coloboma) | ABCB6, ACTB, ADAMTS18, ALDH1A3 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | HSP-Spastic Paraplegia Panel | ABCD1, ADGRB2, AFG3L2, ALDH18A … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Bardet-Biedl Syndrome (BBS) | ALMS1, ARL6, BBIP1*, BBS1, BBS … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Platelet Aggregation Disorders | ANO6, AP3B1, ARPC1B*, BLOC1S3* … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Cleft Lip and Palate | ACACB, ACBD5, ACSS2, ACTC1, AD … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Corneal Dystrophy (including PPCD (PPMD) | AGBL1, CHRDL1, CHST6, COL17A1, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Craniosynostosis | ABCC9, ALPL, ALX1, ALX3, ALX4, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | DISTAL Spinal Muscular Atrophy | AARS1, ASAH1, ATP7A, BICD2, BS … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Dyslipidemia | ABCA1, ABCG5, ABCG8, ALMS1, AN … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Purine and Pyrimidine Metabolism Disorders | ADA, ADSL, AMPD1, APRT, ATIC, … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Comprehensive Neuromuscular Disorders | ABHD5, ACAD9, ACADL, ACADM, AC … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Macular Dystrophy (Degeneration) | ABCA4, BEST1, C1QTNF5, C3, CDH … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Broad Kidney | ACTN4, ADCY10, ALG8, ANLN, APO … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Craniofacial Dysostosis | ALPL, ALX1, ALX3, ALX4, CHD7, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Hereditary Pediatric Cancer | AIP, ALK, ANKRD26, APC, ATM, A … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Hereditary Motor Neuropathy | ASAH1, ATP7A, BICD2, BSCL2, CH … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Paraganglioma-Pheochromocytoma | EGLN1, FH, KIF1B, MAX, MEN1, N … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Fanconi Anemia | ATM, ATR, BLM, BRCA2, BRIP1, C … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Periodic Paralysis | ATP1A2, CACNA1S, CLCN1, KCNJ2, … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Optic Atrophy | ACO2, AFG3L2, ATAD3A, AUH, C12 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Congenital Heart Disease | ABL1, ACTA2, ACTB, ACTC1, ACTG … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Cardiology Comprehensive | A2ML1, AARS2, ABCC6, ABCC9, AC … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Diabetes Insipidus | AQP2, AVP, AVPR2 | CES | 8 Weeks | |
| NGS Gene Panel | Vitreoretinopathy | ATOH7, BEST1, CAPN5, COL11A1, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Myopia | ARR3, BSG, COL11A1, COL11A2, C … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Early infantile epileptic encephalopathy | ABAT, ACTL6B, ADAM22, ADAR, AD … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Thrombocytopenia | ABCG5,ABCG8,ACTB,ACTN1,ADAMTS1 … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Familial Lipodystrophy | AGPAT2, AKT2, BSCL2, CAV1, CID … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | hyper IgE syndrome | CARD11, DOCK8, DSG1, ERBIN, IL … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Lysosomal Storage Disorders | ABCC8, ACY1, ADAMTSL2, ADSL, A … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Congenital Hepatic Fibrosis – Comprehensive | *ABCB11, ABCB4, ABCC2, ABCG5, … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Fatty Acid Oxidation | ACAD8, ACAD9, ACADL, ACADM, AC … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Hypercalcemia | AP2S1*, ADCY10, AGXT, APRT, AT … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Joubert Syndrome | AHI1, ARL13B, ARMC9, B9D1, B9D … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Dyskeratosis congenita | ACD, CTC1, DKC1, GRHL2, LIG4, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Periodic Fever | ADA2, ASAH1, CARD14, ELANE, IL … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Sudden infant death syndrome (SIDS) | ABCC9, ACADM, AKAP9, ANK2, CAC … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Porphyria | ALAD, ALAS2, CPOX, FECH, HFE, … View more | CES | 8 Weeks | |
| NGS Gene Panel | Growth Hormone Deficiency | BTK, GH1, GHR, GHRHR, GHSR, HE … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Polydactyly / Brachydactyly / Syndactyly | BMP2, BMPR1B, CHSY1, DHCR7, ES … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Limb and Digital Malformations | ACVR1, ADAMTS10, ADAMTS17, AFF … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Premature aging | ACAN, AGPAT2, ALDH18A1, ATR, B … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Renal Tubular Disorders | ACE, AGT, AGTR1, AQP2, ATP6V0A … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Hereditary hemolytic anemia (HHA) | ABCG5, ABCG8, ADA, AK1, ALAS2, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Cancer – Comprehensive (TWIST) | AFP,AIP,ALK,ANKRD26,APC,ATM,AX … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Cancer (HPD) | ABRAXAS1,APC,ATM,AXIN2,BAP1,BA … View more | 8 Weeks | ||
| NGS Gene Panel | Congenital Stationary Night Blindness | CABP4, CACNA1F, CACNA2D4, CHM, … View more | TWIST or CES | 8 Weeks | |
| NGS Gene Panel | Schwannomatosis | SMARCB1, LZTR1, NF2 | TWIST | 8 Weeks | |
| NGS Gene Panel | Senior Loken Syndrome | ANKS6, CEP164, CEP290, CEP83, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Acidemia Aciduria and Homocystinuria | ABCD4, ACADSB, ACAT1, ACSF3, A … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Peroxisomal Disorders | ABCD1, ABCD3, ACOX1, AGPS, AGX … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Polymicrogyria | ADGRG1, AKT3, FH, GPSM2, KIF1B … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Hidreadenitis suppurativa | NCSTN, PSENEN , PSEN1 | CES | 8 Weeks | |
| NGS Gene Panel | Reticulate hyperpigmentation | KRT5, POFUT1, POGLUT1, PSENEN | TWIST | 8 Weeks | |
| NGS Gene Panel | Cholestasis | ABCB11, ABCB4, ABCC2, ABCD3, A … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Neurodevelopmental Disorders (NDD) | ACTB, ACTG1, ADNP, ADSL, AGA, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Hyperekplexia | ARHGEF9, ASNS, ATAD1, CLPB, CT … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Hypotrichosis | APCDD1, CDH3, CDSN, DSC3, DSG4 … View more | TWIST | 8 weeks | |
| NGS Gene Panel | CP – Cerebral Palsy | ABAT,ACADM,ACADVL,ACAT1,ACBD5, … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Left Ventricular Non-Compaction Cardiomyopathy (LVNC) | ABCC9,ACTC1,ACTN2,BAG3,CTNNA3, … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Heterotaxy and Situs Inversus | ACVR2B, AK7, ANKS6, ARMC4, CCD … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Comprehensive Pulmonary disease panel | ABCA3,ARHGEF1,C11ORF70,CCDC39, … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Hypophosphatemia | ALPL,CLCN5,CTNS,CYP27B1,CYP2R1 … View more | CES | 8 שבועות | |
| NGS Gene Panel | Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) | ACTG2,LMOD1,MYH11,MYL9,MYLK | TWIST | 8 שבועות | |
| NGS Gene Panel | Moyamoya | ACTA2,ADA2,ATR,CCER2,CENPJ,CEP … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Neuropathies inc. CMT | AARS,AGTPBP1,AIFM1,AMACR,APOA1 … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Amelogenesis and Dentinogenesis Imperfecta | AMELX,CNNM4,DLX3,DSPP,ENAM,FAM … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Congenital fibrosis of extraocular muscles (CFEOM) | CHN1,COL25A1,ECEL1,HOXA1,HOXB1 … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Congenital Disorders of Glycosylation (CDG) | A4GALT,ALG1,ALG11,ALG12,ALG13, … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Metabolic disorders of hepatocytes | ABCB11,ABCB4,ABCC2,ABCG5,ABCG8 … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Hereditary Renal Cancer Panel | BAP1,CDC73,CDKN1C,DICER1*,DIS3 … View more | TWIST/CES | 8 שבועות | |
| NGS Gene Panel | Platelet Disorders | ACTN1,ADAMTS13,ANKRD26,ANO6,AP … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Autoimmune Lymphoproliferative Syndrome | ADA2,CASP10,CASP8,CTLA4,FADD,F … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Vascular Malformations including Cerebral Cavernous | ACVRL1, ANTXR1, BMPR2, CAV1, C … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Gastrointestinal Atresia | CDK9,CHD7,CLMP,DHCR7,EFTUD2,FA … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Hyperoxaluria | AGXT,GRHPR,HOGA1 | TWIST | 8 שבועות | |
| NGS Gene Panel | Stroke | ABCA1,ABCC6,ABCG5,ABCG8,ACAD9, … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Leigh syndrome | AIFM1,ALDH5A1,ARX,BCS1L,C12orf … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | IUGR and IGF abnormalities | AMMECR1, ANKRD11, BLM, BRAF, C … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Metabolism – Comprehensive | A4GALT, ABCC8, ABCD1, ABCD3, A … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Hydatidiform mole, recurrent | C11orf80, KHDC3L, MEI1, NLRP7 | TWIST | 8 Weeks | |
| NGS Gene Panel | Axenfeld-Rieger Syndrome | ASPH, B3GLCT, COL4A1, CYP1B1, … View more | TWIST | 8 Weeks | |
| NGS Gene Panel | Hereditary Angioedema | ANGPT1,F12,HS3ST6,KNG1,MYOF,PL … View more | TWIST | 8 שבועות | |
| NGS Gene Panel | Adrenal insufficiency and Glucocorticoid Deficiency | AAAS,ABCD1,AIRE,CDKN1C,CYP11A1 … View more | TWIST | 8 שבועות | |
| Gene Sequencing | EDAR – ANHIDROTIC ECTODERMAL DYSPLASIA 3 | EDAR | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | Almost Any Gene – Sequencing of almost any gene | Almost Any Gene | Sanger Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ABCA4 – STARGARDT DISEASE, TYPE 1 | ABCA4 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ABCC8 – HYPERINSULINEMIC, HYPOGLYCEMIA, FAMILIAL, TYPE 1 | ABCC8 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ABCD1 – Adrenoleukodystrophy | ABCD1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ACVRL1 – Activin A Receptor, Type II-Like ; Arteriovenous Malformations of the Brain | ACVRL1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ALK – Anaplastic Lymphoma ; Lung Cancer Alveolar Cell Carcinoma | ALK | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | APC – Diagnosis of Familial Adenomatous Polyposis (FAP) | APC | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | POLYPOSIS COLI, ADENOMATOUS | APC+MYH | NGS | 8 weeks | |
| Gene Sequencing | -ARSA (metachromatic leucodystrophy (MLD | ARSA | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ARSB – MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6 | ARSB | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ARX – X-linked mental retardation and epilepsy | ARX | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ASPA – CANAVAN DISEASE | ASPA | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | -ASXL1 myelodysplastic syndromes and chronic Smyelomonocytic leukemia | ASXL1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ATM – Ataxia Telangiectasia | ATM | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ATP7A – Menkes Disease; Occipital Horn Syndrome; Spinal Muscular Atrophy, Distal, X-linked 3 | ATP7A | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ATP7B – Wilson Disease | ATP7B | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | AVP – DIABETES INSIPIDUS, NEUROHYPOPHYSEAL | AVP | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | BBS2 – BARDET-BIEDL SYNDROME TYPE 2, BBS2 | BBS2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | BCKDHB – MSUD – MAPLE SYRUP URINE DISEASE | BCKDHB – MSUD | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | BMPR1A – JUVENILE POLYPOSIS SYNDROME | BMPR1A | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | BMPR2 – Primary Pulmonary Hypertension, PPH1 | BMPR2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | BRCA1+2 – Diagnosis of Familial Breast Cancer | BRCA1+2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | BRCA1+2 – Diagnosis of Familial Breast Cancer | BRCA1/2 | NGS | UP TO 6 WEEKS | |
| Gene Sequencing | CAPN3 – LIMB GIRDLE MUSCULAR DYSTROPHY 2A, LGMD2A | CAPN3 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PARATHYROID CARCINOMA; HYPERPARATHYROIDISM 1/2, HRPT1/2 | CDC73 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | CDH1 – Gastric Cancer | CDH1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | CDKN1C – BECKWITH-WIEDEMANN SYNDROME, BWS | CDKN1C | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | CF – Diagnosis of Cystic Fibrosis | CF | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | CFTR – Cystic Fibrosis, CF Congenital Bilateral Absence of Vas Deferens, CBAVD | CFTR | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA | CHAT | Full Sequencing | 3 weeks | |
| Gene Sequencing | CHARGE SYNDROME | CHD7 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | CLCN1 – MYOTONIA CONGENITA (AUTOSOMAL DOMINANT/RECESSIVE) – THOMSEN DISEASE / BECKER MYOTONIA; MYOTONIA LEVIOR | CLCN1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | CLCN5 – DENT NEPHROCALCINOSIS / NEPHROLITHIASIS (X-LINKED) | CLCN5 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | CLRN1 – USHER SYNDROME, TYPE 3, USH3 | CLRN1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | COG4 – Congenital disorder of glycosylation, type iij; Oculocerebrorenal syndrome | COG4 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | COG8 – CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2H, CDG2H | COG8 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | COL2A1 – Stickler Syndrome, Type I, Nonsyndromic Ocular; Collagen, Type II, Alpha; Avascular Necrosis of Femoral Head, Primary; Legg-Calve-Perthes Disease; Osteoarthritis Susceptibility | COL2A1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | COL3A1 – EHLERS-DANLOS TYPE 4 EDS4 / FIBROMUSCULAR DYSPLASIA | COL3A1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | COL4A5 -Alport Syndrome | COL4A5 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | COMP – osteochondrodysplasias pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). | COMP | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | LEBER CONGENITAL AMAUROSIS; RETINITIS PIGMENTOSA, TYPE 12; PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY | CRB1 | Full Sequencing | 3 weeks | |
| Gene Sequencing | CREBBP – RUBINSTEIN-TAYBI SYNDROME | CREBBP | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | CYP19A1- either increased or decreased aromatase activity | CYP19A1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | -CYP1B1 primary congenital glaucoma | CYP1B1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION | DARS2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | DHCR7 – Smith-Lemli-Opitz Syndrome, SLO | DHCR7 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | DLD – MAPLE SYRUP URINE DISEASE | DLD | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | DMD – Duchenne Muscular Dystrophy | DMD | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | DOK7 – MYASTHENIA, LIMB-GIRDLE, FAMILIAL | DOK7 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ANHIDROTIC ECTODERMAL DYSPLASIA 3 | EDAR | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | – EFNB1 CRANIOFRONTONASAL SYNDROME | EFNB1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ENG – Telangiectasia, Hereditary Hemorrhagig, Type 1 | ENG | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | EP300- RUBINSTEIN-TAYBI SYNDROME | EP300 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | EXT1 – MULTIPLE EXOSTOSES, TYPE 1, EXT1, HME | EXT1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | EXT2 – MULTIPLE EXOSTOSES, TYPE 2, EXT2, HME | EXT2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | EYA1 – BRANCHIO-OTO-RENAL SYNDROME, TYPE1, BOR1 | EYA1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | HAEMOPHILIA A – FACTOR 8 | F8 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | F11 – PTA DEFICIENCY | F11 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | -FBN1 Marfan syndrome | FBN1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | FGF10 – Lacrimoauriculodentodigital Syndrome; LADD | FGF10 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | FGF23 – HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL DOMINANT) | FGF23 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | FGFR2 – Lacrimoauriculodentodigital Syndrome; LADD | FGFR2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | FLNA – HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT) | FLNA | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | FMF – Hereditary Recurrent Fever | FMF | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | FOXC1 – RIEGER SYNDROME, TYPE 1, RIEG1; PETERS ANOMALY; IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2 | FOXC1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | FREM2 – Fraser Syndrome | FREM2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | G6PC – GLYCOGEN STORAGE DISEASE, TYPE 1A, GSD1a | G6PC | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | GAMT | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | GAL – Pain disorder; Normal pressure hydrocephalus | GAL | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | GALNS – MUCOPOLYSACCHARIDOSIS, TYPE 4A, MPS4A | GALNS | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | GBA – GAUCHER DISEASE, TYPE 1 | GBA | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | GLUTARIC ACIDURIA, TYPE 1 | GCDH | Full Sequencing | 3 weeks | |
| Gene Sequencing | GH1 – Isolated Growth Hormone Deficiency, Type IA/ Type IB/ Type II ; Kowarski Syndrome | GH1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | GJB1 – CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY (X-LINKED), CMTX | GJB1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | GJB2 – Deafness | GJB2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | GJB6 – Deafness | GJB6 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | GLA – FABRY DISEASE | GLA | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | GLDC – NONKETOTIC HYPERGLYCINEMIA | GLDC | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | GNAS1 – Osseous Heteroplasia, Progressive; POH | GNAS1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | GRIP1 – Cryptophthalmos; Grip1-related fraser syndrome | GRIP1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | HBB – Beta Haemoglobinopathia » Beta Thalassemia Sickle Cell Anemia | HBB | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | HEXA – TAY-SACHS DISEASE | HEXA | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | HLCS – HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | HLCS | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | HOXD13 – Talipes equinovarus; Brachydactyly type d | HOXD13 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | HRAS – COSTELLO SYNDROME | HRAS | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PARATHYROID CARCINOMA; HYPERPARATHYROIDISM 1/2, HRPT1/2 | HRPT2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | IKBKAP – Familial Dysautonomia | IKBKAP | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | IKBK6 | IKBK6 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | KCNH2 – long QT syndrome type 2 | KCNH2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | DIABETES MELLITUS, PERMANENT NEONATAL; NESIDIOBLASTOSIS | KCNJ11 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | KCTD7 – progressive myoclonic epilepsy-3 | KCTD7 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | KHDC3L – Hydatidiform mole, recurrent | KHDC3L | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | KRAS – CANCERS | KRAS | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | L1CAM – Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius; Corpus Callosum Agensis; Crash Syndrome; Familial Spastic Paraplegia 1 | L1CAM | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | LRP4 – Syndactyly; Hyperostosis | LRP4 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | MED12 – Exons 21,22 – X-linked Opitz-Kaveggia syndrome and Lujan-Fryns syndrome | MED12 – Exons 21,22 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | MEFV – 4 Exons – Mediterranean fever | MEFV – 4 Exons | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | MEN1- Multiple Endocrine Neoplasia, Type 1, MEN1 | MEN1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | MID1 – OPITZ SYNDROME | MID1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | MLH1 – Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) | MLH1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | MNX1 – Currarino syndrome | MNX1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | MPZ – Charcot-Marie-Tooth Disease; Dejerine-Sottas Disease; Neuropathy, Congenital Hypomyelinating; Roussy-Levy Syndrome | MPZ | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | MSH2 – Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) | MSH2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | MVK – Hereditary Recurrent Fever | MVK | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | MYH – Diagnosis of Familial Adenomatous Polyposis (FAP) | MYH | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | MSH6 – Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) | MSH6 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | MYOC – GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1 | MYOC | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | NF-1 – Neurofibromatosis, Type 1, NF1 » Von Recklinghausen Disease | NF-1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | NF-2 – Neurofibromatosis Type 2, NF2 | NF-2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | NIPBL – CORNELIA DE LANGE SYNDROME | NIPBL | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | NLRP3 – Hereditary Recurrent Fever | NLRP3 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | NLRP7 – Gestational trophoblastic neoplasm; Hydatidiform mole, recurrent | NLRP7 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | NOG – tarsal-carpal coalition syndrome, Proximal Symphalangism, Multiple synostoses syndrome, stapes ankylosis | NOG | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | NOTCH3 – CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, CADASIL | NOTCH3 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | NPC1 – NIEMANN-PICK DISEASE, TYPE C1, NPC1 | NPC1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | NPHS2 – NEPHROTIC SYNDROME, STEROID-RESISTANT, (AUTOSOMAL RECESSIVE), SRN1 | NPHS2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | NSD1 – CEREBRAL GIGANTISM | NSD1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | NYX – NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A | NYX | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | OPA3 – OPTIC ATROPHY, TYPE 3, OPA3 (AUTOSOMAL RECESSIVE) – Costeff | OPA3 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PAH – PHENYLKETONURIA, PKU | PAH | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PALB2 – Breast Cancer, Fanconi anemia type N | PALB2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PARK2 – Adenocarcinoma of Lung, Somatic; Adenocarcinoma, Ovarian, Somatic; Parkinson Disease, Juvenile, Type 2 | PARK2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PAX2 – RENAL-COLOBOMA SYNDROME | PAX2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PAX3 – WAARDENBURG SYNDROME, TYPE 1, WS1 | PAX3 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PAX6 – ANIRIDIA, TYPE 2, AN2; KERATITIS; ECTOPIA PUPILLAE; PETERS ANOMALY; etc. | PAX6 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PROPIONIC ACIDEMIA | PCCA | Full Sequencing | 3 weeks | |
| Gene Sequencing | PCDH15 – Deafness, Autosomal Recessive 23; Usher Syndrome, Type 1D/F Digenic; Usher Syndrome, Type 1F | PCDH15 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PDSS2 – COENZYME Q10 DEFICIENCY | PDSS2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PEX2 – Refsum Disease, Infantile | PEX2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | CONGENITAL CENTRAL HYPOVENTILATION SYNDROME | PHOX2B | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PITX2 – RIEGER SYNDROME, TYPE 1, RIEG1; PETERS ANOMALY; IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2 | PITX2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PKD1 – autosomal dominant polycystic kidney disease type 1 | PKD1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PKD2 – autosomal dominant polycystic kidney disease type 2 | PKD2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PKHD1 – Polycystic Kidney Disease (Autisomal Recessive) , ARPKD | PKHD1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PLP1 – Pelizaeus-Merzbacher Disease | PLP1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PMS2 – Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) | PMS2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PRNP – Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1 | PRNP | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PTEN – Bannayn Myhre Riley Ruvalcava Smith Zonana Syndrome, Cowden Disease | PTEN | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | PYGM – GLYCOGEN STORAGE DISEASE, TYPE 5 | PYGM | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | RASA1 – Arteriovenous malformation; Parkes weber syndrome | RASA1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | RB1 – RETINOBLASTOMA | RB1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | HIRSCHSPRUNG DISEASE, TYPE 1; RENAL AGENESIS; MTC; MULTIPLE ENDOCRINE NEOPLASIA, TYPE 2A/B, MEN2A/B | RET | Full Sequencing | 3 weeks | |
| Gene Sequencing | RPE65 – RETINITIS PIGMENTOSA, TYPE 20, RP20 | RPE65 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | GEFS+; SEVERE MYOCLONIC EPILEPSY OF INFANCY; ICEGTC; SMEIB | SCN1A | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | SCN9A – ERYTHERMALGIA, PRIMARY; INDIFFERENCE TO PAIN, CONGENITAL (AUTOSOMAL RECESSIVE); PAROXYSMAL EXTREME PAIN DISORDER | SCN9A | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | SDHB – Paragangliomas and Pheochromocytoma | SDHB | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | SDHD -Hereditary Paraganglioma | SDHD | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | SEPSECS (PCCA) – PROPIONIC ACIDEMIA | SEPSECS (PCCA) | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | SERPINA1 – emphysema or liver disease | SERPINA1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | SIX5 – BRANCHIO-OTO-RENAL SYNDROME, TYPE 2, BOR2 | SIX5 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | SLC26A3 – Congenital Chloride Diarrhea | SLC26A3 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | SMAD4 – Juvenile Polyposis | SMAD4 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | SMARCB1 – Rhabdoid tumor; Atypical teratoid rhabdoid tumor | SMARCB1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | SMPD1 – NIEMANN-PICK DISEASE, TYPE A & B | SMPD1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | SOX10 – WAARDENBURG-SHAH SYNDROME | SOX10 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | STK11 – Peutz-Jeghers Syndrome, PJS » Hamartous Intestinal Polyposis | STK11 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TBX3 – ulnar-mammary syndrome | TBX3 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TBX5 – Holt-Oram Syndrome | TBX5 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TCOF1 – Treacher Collins Syndrome 1 | TCOF1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TERC – Autosomal Dominant Dyskeratosis Congenita | TERC | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TERT – Dyskeratosis Congenita, Idiopathic Pulmonary Fibrosis | TERT | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TFAP2A – Branchiooculofacial Syndrome | TFAP2A | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TGFBR1 – LOEYS-DIETZ SYNDROME | TGFBR1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TGFBR2 – MARFAN SYNDROME, TYPE 2, MFS2; LOEYS-DIETZ SYNDROME | TGFBR2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | THAP1 – DYSTONIA 6, DYT6 | THAP1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TMC1 – DEAFNESS, DFNA36; DEAFNESS, DFNB7 | TMC1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TMEM216 – Joubert syndrome 2; Meckel syndrome type 2 | TMEM216 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TNFRSF1A – HIBERNIAN FEVER, FAMILIAL | TNFRSF1A | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TP53 – Li-Fraumeni Syndrome; Osteosarcoma; Breast Cancer, Familial; ;Pediatric Adrenocortical Carcinoma | TP53 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TPMT- Pharmacogenetics | TPMT | Full Sequencing | UP TO 6 WEEKS | |
| Gene Seuencing | TSC1 – Tuberous Sclerosis | TSC1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TSC2 – Tuberous Sclerosis | TSC2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TSC1+2 – TUBEROUS SCLEROSIS | TSC1+2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | TRAPS – Hereditary Recurrent Fever | TRAPS | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ANGELMAN SYNDROME, AS | UBE3A | Full Sequencing | 3 weeks | |
| Gene Sequencing | UMOD – MEDULLARY CYSTIC KIDNEY DISEASE 2, MCKD2; FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY, HNFJ | UMOD | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | UPK3A – Ovarian brenner tumor; Upk3a-related renal adysplasia | UPK3A | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | VDR – VITAMIN D-DEPENDENT RICKETS, TYPE 2A | VDR | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | VHL – Von Hippel-Lindau Syndrome | VHL | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD | WISP3 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | WT1 – WILMS TUMOR 1 | WT1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ZEB1 – Corneal dystrophy, posterior polymorphous, 3; Corneal dystrophy, fuchs endothelial, 6 | ZEB1 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ZEB2 – Mowat-Wilson Syndrome | ZEB2 | Full Sequencing | UP TO 6 WEEKS | |
| Gene Sequencing | ZIC3 – HETEROTAXY, VISCERAL (X-LINKED) | ZIC3 | Full Sequencing | UP TO 6 WEEKS | |
| Special Tests | FMR1 – FRAGILE X SYNDROME, FRAXA | FMR1 | Asuragen | UP TO 6 WEEKS | |
| Pharmacogenetics | 5FU – Sequencing – 1 polymorphism – | DPYD | Sequencing | UP TO 6 WEEKS | |
| Pharmacogenetics | 5FU – Sequencing – 5 polymorphisms- Assessment of 5-Fluorouracil sensitivity | DPYD | Sequencing | UP TO 6 WEEKS | |
| Pharmacogenetics | ClopidoRisk – Assessment of Clopidogrel (Plavix) responsiveness | CYP2C19 / ABCB1 | ELISA-based SNP Detection | UP TO 6 WEEKS | |
| Pharmacogenetics | IrinoRisk – Assessment of Irinotecan toxicity | UGT1A1 | Fragment Analysis | UP TO 6 WEEKS | |
| Pharmacogenetics | TamoxiRisk – Assessment of Tamoxifen responsiveness | CYP2D6 | Sequencing | UP TO 6 WEEKS | |
| Pharmacogenetics | ThromboRisk – Predisposition to Thrombosis | Factor V / MTHFR / Prothrombi … View more | ELISA-based SNP Detection | UP TO 6 WEEKS | |
| Pharmacogenetics | WarfaRisk – Assist in Warfarin (Coumadin) dosage determination | CYP2C9 / VKORC1 | ELISA-based SNP Detection | UP TO 6 WEEKS | |
| Special Tests | BRCA1+2 – Ashkenazi – Diagnosis of Familial Breast Cancer – 3 Ashkenazi mutations | BRCA1+2 | ELISA-based SNP Detection | UP TO 6 WEEKS | |
| MLPA Tests | Y Deletion – Diagnosis of micro-deletions on chromosome Y that may cause fertility problems | Various | MLPA | UP TO 6 WEEKS | |
| Special Tests | Celiac Disease – Screening for HLA genes that predispose to Celiac Disease | HLA DQ2 / DQ8 | SSP | UP TO 6 WEEKS | |
| Special Tests | Postnatal Diagnosis – Diagnosis of one known mutation | Various | Sequencing | UP TO 6 WEEKS | |
| Special Tests | Prenatal Diagnosis – Diagnosis of known mutation/s in one gene | Various | UP TO 6 WEEKS | ||
| MLPA Tests | BRCA1+2 – deletion/duplication – Diagnosis of Familial Breast Cancer | BRCA1+2 | MLPA | UP TO 6 WEEKS | |
| MLPA Tests | DMD – deletion/duplication – Diagnosis of Duchenne Muscular Dystrophy (DMD) | Dystrophin | MLPA | UP TO 6 WEEKS | |
| MLPA Tests | SMA – deletion/duplication – Diagnosis of Spinal Muscular Atrophy (SMA) | SMN1 – Exon 7+ 8 | MLPA | UP TO 6 WEEKS | |
| MLPA Tests | FAP – deletion/duplication – Diagnosis of Familial Adenomatous Polyposis (FAP) | APC / MYH | MLPA | UP TO 6 WEEKS | |
| MLPA Tests | HNPCC – deletion/duplication – Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) | MSH6 / PMS2 / MSH2 / MLH1 | MLPA | UP TO 6 WEEKS | |
| MLPA Tests | MLPA Prenatal (long gene) – Diagnosis of deletion/duplication of long genes (MRC list) | Various | MLPA | UP TO 6 WEEKS | |
| MLPA Tests | MLPA Prenatal (short gene) – Diagnosis of deletion/duplication of short genes (MRC list) | Various | MLPA | UP TO 6 WEEKS | |
| MLPA Tests | MLPA other genes (long gene) – Diagnosis of deletion/duplication of long genes (MRC list) | Various | MLPA | UP TO 6 WEEKS | |
| MLPA Tests | MLPA other genes (short gene) – Diagnosis of deletion/duplication of short genes (MRC list) | Various | MLPA | UP TO 6 WEEKS |
- בדיקות לגנטיקה מולקולרית MLPA
- GenomiT בדיקה מקיפה לאיתור מומים ותסמונות אצל העובר
- בדיקת דם שקיפות עורפית וסקר ביוכימי ראשון
איך לתאם תור ליועץ או בדיקות גנטיות ?
לצורך תיאום תור לבדיקות גנטיות באופן פרטי, יש צורך מלאה בהבנה של אותה מחלה שאנו רוצים לבדוק וזה אומר שחייב להתבצע ייעוץ של מומחה בתחום. מגוון רחב של בדיקות גנטיות מאפשר לבדוק מגוון רחב של מחלות, למקד את הצוות הרפואי בטיפול נכון ולמנוע אבחנות שגויות. אנו נעשה את מירב כדי לכוון את הבדיקות למחלות ספציפיות של חולה וזה יחסוך מהמטופל זמן, כסף בהמתנה של תשובות לבדיקות שלא היה בהם צורך לכן לפני שמתחילים, אנא שלחו לנו את כל המסמכים רפואיים ו/או הפנייה מהרופא. לאחר בדיקה של מסמכים רפואיים, אנו נתאם יועץ ו/או פגישה.
