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 |
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], [ | Mucolipidosis type IV |
GNPTAG;[167delC] | Mucolipidosis type IIIc |
SMPD1; [L302P], [delfsP330], [R496L] | Niemann Pick type A/B |
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 | |
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 |