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| 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 |
Отделения
Отделение Педиатрии
Дерматология
Эндокринология
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