Personal genetic tests

Tel Aviv Medical Clinic has been providing personal genetic testing services to Israeli citizens for many years already. Our center works with medical facilities that specialize in sequencing and treating genetic diseases in patients of all ages. Genetics is a very complex science that sometimes doesn’t provide clear answers. Therefore, we have made it our mission to bring together global experts and the latest scientific discoveries to provide top-quality service and treat even the most difficult cases. We render all our services privately.

Our services:

Prenatal genetic tests

Specialized genetic tests for children and adults: cancer genetics, neurogenetics, endocrine genetics, nephrogenetics, ophthalmic genetics, cardiogenetics, and Gaucher’s disease treatment.

Type	Name / Description	Gene	Technology	Tat
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 – Assessment of 5-Fluorouracil sensitivity	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

Genetic compatibility test for coeliac disease patients.
MLPA (multiplex ligation-dependent probe amplification)
GenomiT panel to identify fetus abnormalities and disorders
Nuchal translucency bloodwork and first biochemical screening.

Book your appointment or genetic test

To book your personal genetic test, you first need to know which disease you are testing for, which is best determined during an appointment with our medical specialist. We offer a wide array of genetic tests to detect many genetic disorders and conditions, point the doctors to a suitable treatment, and prevent incorrect diagnoses. We are doing everything to recommend the appropriate tests for our patients cases to save them time and money. Therefore, we require you to send us your medical documents and/or your doctor’s referral. After we check your paperwork, we will book an appointment for you.

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