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רשימת הבדיקות הגנטיות המבוצעות במכון

 

Test

Name of disease

FGF3R;[G380R]

Achondroplasia

SERPINA1; Z [E342K], S [E264V]

Alpha antitrypsin deficiency

ATM; [R35X], [1339C>T], [6672delGG] [6677delTACG]

Ataxia Telangiectasia

ASL, [Q116X]

Argininosuccinic aciduria

BTD, [G34S],[ R538H]

sequencing of the gene

Biotinidase deficiency

BLM; [2281del6/ins7]

Bloom syndrome

BRCA1 ; [185delAG], [5382insC], [Y978X]

BRCA1 Hereditary Breast/Ovarian Cancer

BRCA2 ; [6174delT], [8765delAG]

BRCA2 Hereditary Breast/Ovarian Cancer

ASPA; [854A>C], [p693C>A]

Canavan disease

CASQ2, [D307H]

Catecholamine-Induced Polymorphic Ventricular Tachycardia

CPS1; [R1089C]

Carbamyl phosphate synthetase deficiency

CPT1A;[D454G]

Carnitine Palmitoyltransferase

CYP27A1;[355delC], [Exon 4-1bpdelT], [Intron 4-IVS4+1G>A]

Sequencing of the gene

Cerebrotendinous Xanthomatosis (CTX)

CSB (ERCC6) ; [c.1034-1035insT], Sequencing of whole gene

Cockayne syndrome

CSA (ERCC8); [Y322X], Sequencing of whole gene

Cockayne syndrome

Transcription-coupled repair assay, Colony Forming Ability, assay, MTT

Cockayne syndrome

APC; [I1307K]

Colorectal Cancer

MHS2;[1906G>C]

Colorectal Cancer (HNPCC)

OPA3, [IVS1-1G>C]

Costeff Optic Atrophy syndrome

CFTR; [deltaF508], [G542X], [N1303K], [W1282X], [S549I], [3849+10kb], [D1152H], [G85E], [405+1G>A], [W1089X,] [Q359K], [4010delTATT], [R75X], [2183AA>G], [3120+1Kb del8.6Kb], [1717-1G>A], [T360K], [S549R], [Y1092X], [C225X], [1677delTA], [3121-1G>A], [G1244E], [2751+1insT]

Cystic fibrosis disease

LGMD2B; [1624delG]

Dysferlin deficiency

 

LAMA3;[2942delA], [N1594K]]

LAMB3;[Q1083X], [Y722X], [R972X] LAMC2;[R586X]

Epidermolysis Bullosa Junctional Herlitz type

IKBKAP; [2507 +6T>C], [R696P]

Familial dysautonomia

FANCA;[2172/2173insG],

[c.3785delTCT]

Fanconi Anemia type A

FACC; [IVS4+4A>T]

Fanconi type C

FMR1; Expansion

Fragile X syndrome

GBA; [84GG], [IVS2+1], [N370S], [L444P], [V394L]

Gaucher disease

GJB2; [G35del], [167delT]

GJB2-related DFNA1 non-syndromic hearing loss

GJB6; D13S1830 deletion

GJB6-related DFNA1 non-syndromic hearing loss

G6PT; [R83C]

Glycogen Storage Disease Type Ia (GSD-Ia)

G6PT; [4455delT]

Glycogen Storage Disease Type III (GSD-III)

HFE; [C282Y], [H63D]

Hemochromatosis

PRSS1(Sequencing of whole gene); SPINK1(Sequencing of whole gene)

Hereditary Pancreatitis

FGFR3;[N540K]

Hypochondroplasia

ALDOB (Sequencing of whole gene)

Hereditary Fructose Intolerance (HFI)

Genotyping of 15 types

Human Papilloma Virus (HPV)

Endolgin [c.932T>G]

HHT-Osler Weber Rendu Syndrome

DYT1; [301delGAG]

Idiopathic Torsion Dystonia

PTHR1;[T410P], [H223R]

Jansen's Metaphyseal Chondrodysplasia

TBCE; [155-166del]

Kenny-Caffey syndrome

GALC; [1582G>A], [1748T>G]

Krabbe disease

DYS; [1624delG]

Limb Girdle muscular dystrophy (LGMD2B)

HPRT1;[212insG]

Lesch-Nyhan disease

INSR (Sequencing of whole gene)

Leprechaunism / Insulin resistance

BCKDHB; [R183P], [S289L] ,[V69G]

Maple Syrup Urine Disease (MSUD)

ARASA; [P377L], [T274M]

Metachromatic Leukodystrophy

DGUOK;[204delA]

Mitochondrial Depletion Syndrome (MDS)

MOCS1;[ R39L] 722delT],[R91W]

Molybdenum cofactor deficiency

MCOLN1; [IVS3 2A>G], [Del (ex1-7)]

Mucolipidosis type IV

GNPTAG;[167delC]

Mucolipidosis type IIIc

SMPD1; [L302P], [delfsP330], [R496L]

Niemann Pick type A/B

NEB; [R2478], [D2512del ]

Nemaline myopathy

HSPD1;[D29G]

Pelizeus-Merzbacher-like disease

PEPD;[S202F],[A212P],[L368R] and sequencing of whole gene

Prolidase deficiency

PDS; [1421delT]

Pendred syndrome

GAA; [D404N]

Pompe disease

AGXT; [156insC], [G41R], [M195R] [D243H], [480+1G>A], [1119A>T], [R233C], [Del Ex10-11], [ I279M], [G894C], [IVS2+1G>A], Sequencing of whole gene

Primary hyperoxaluria type I

PNPO; [R95H]

and sequencing of whole gene

Pyridoxamine 5'-phosphate oxidase deficiency

ABCA3; [R106X]

Surfactant protein deficiency

SMN1, SMN2 [Homozygote deletion in ex7,ex8]

Spinal Muscular Atrophy (SMA)

deletion

SRY- deletion

HEX A; [1278insTATC]; [IVS12+1G-C], [G805A], [496delC] ,[S279P ], [deltaF304/305], [R170Q], [IVS5-2A>G]

Tay-Sachs

PCDH15; [R245X]

Usher syndrome type I

USH3; [N48K ]

Usher syndrome type III

G93R and sequencing of Whole gene

Von-Hippel-Lindau disease (VHLD)

ATP7B; [3651del6] Sequencing of whole gene

Wilsondisease

LIPA; [S106X]

Wolman disease

XPA [Sequencing of whole gene] Transcription-coupled repair assay, Colony Forming Ability, assay, MTT

Xeroderma pigmentosum A

XPB;[Sequencing of whole gene] Transcription-coupled repair assay, Colony Forming Ability, assay, MTT

Xeroderma pigmentosum B

XPC; [669delAT],Sequencing of whole gene Transcription-coupled repair assay, Colony Forming Ability, assay, MTT

Xeroderma pigmentosum C

XPD [Sequencing of whole gene] Transcription-coupled repair assay, Colony Forming Ability, assay, MTT

Xeroderma pigmentosum D

XPG [Sequencing of whole gene] Transcription-coupled repair assay, Colony Forming Ability, assay, MTT

Xeroderma pigmentosum G

Sequencing of whole gene Transcription-coupled repair assay

Any Gene

 

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