| מס' | שם הבדיקה והמוטציות הנבדקות | גן | שיטת הבדיקה |
| 1 | Achondroplasia:
c.1138G>A, c.1138G>C (p.G380R) | FGFR3 | Sequencing |
| 2 | Achromatopsia:
c.1207C>T (p.R403X) | CNGB3 | Sequencing |
| 3 | Acrodermatitis enteropathica:
c.1223delC (p.A408fsX481) | SLC39A4 | Sequencing |
| 4 | Albinism:
S50X, G253R, R299H, R402X, IVS2-1G>A
G47D, IVS2-7T>A | TYR | Sequencing |
| 5 | Alpha-1 Antitripsin Deficiency:
PiZ- E342K, PiS- E264V | SERPINA1 | RFLP |
| 6 | Alport syndrome:
5232g>A (R1677Q) | COL4A5 | Sequencing |
| 7 | Alstrom:
c.8088C>T (p.R2670X) | ALMS1 | Sequencing |
| 8 | Apparent Mineralocorticoid Excess (AME):
c.793+1G>T (IVS3+1G>T | HSD11B2 | Sequencing |
| 9 | Ataxia Telangiectasia (AT):
c.2284_2285delCT, c.497del7.5kb, c.103C>T (p.R35X) | ATM | RFLP or Elisa Kit or Allele specific PCR |
| c.5558A>T (p.D1853V) | Sequencing |
| 10 | Autosomal Recessive Cone-Rod Dystrophy (arCRD):
c.1648G>A (G550R), c.3607G>A (G1203R), c.4538insC, c.5460+1G>A, c.5882G>A (G1961E), c.3608G>A (G1203E) | ABCA4 | RFLP or Sequencing |
| 11 | Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly:
c.1423C>A | TRAPPC9 | RFLP or Sequencing |
| 12 | Bartter syndrome:
c.212C>T (p.T71M) | KCNJ1 (ROMK) | Sequencing |
| 13 | Bartter and Gitelman syndrome:
c.1313G>A (p.R438H) | CLCNKB | Sequencing |
| 14 | Biotinidase deficiency:
p.G35S | BTD | Sequencing |
| 15 | Bloom Syndrome:
2281 del6/ins7 | BLM | RFLP or Elisa Kit |
| 16 | Breast & Ovarian Cancer:
185delAG, 5382insC, 3053T>g (Y978X)
N363S (c.1088A>G), c.3228delAG | BRCA1 | Allele specific PCR
or Elisa Kit |
| 6174delT, 6503delTT, 8675delAG | BRCA2 |
| 17 | Canavan:
693C>A, 854A>C | ASPA | RFLP or Elisa Kit |
| 18 | Catecholamine-Induced Polymorphic Ventricular Tachycardia:
D307H | CASQ2 | RFLP |
| 19 | CEDNIK syndrome:
c.220delG | SNAP29 | Sequencing |
| 20 | Central Core disease of Muscle:
c.9262G>A (p.V3087M) | RYR1 | Sequencing |
| 21 | Cockayne syndrome:
Y322X , c.843+1G>C | ERCC8 (CSA) | RFLP |
| 22 | Congenital Insensitivity to Pain with Anhydrous (CIPA):
c.207-208delTG | NTRK1 | RFLP or Sequencing |
| c.2150C>T |
| 23 | Congenital Muscular Dystrophy:
160C>T | FKRP | RFLP |
| 24 | Congenital Neutropenia:
c.758G>A (R253H) | G6PC3 | Sequencing |
| 25 | Costeff Optic Athropy Syndrome:
IVS1-1G>C | OPA3 | RFLP |
| 26 | Cystic Fibrosis:
deltaF508, G542X, N1303K, W1282X, S549R, 3849+10kbC>T, D1152H, G85E, 405+1G>A, W1089X, T360K, 4010delTATT, R75X, 2183AA>G, 3120+1Kb del8.6Kb, 1717G>A, 5T, 2751+1insT, 3121-1G>A, Y1092X, I1234V, 1677delTA, G1244E, C225X, E92X | CFTR | NANOGEN
or
RFLP
or
Elisa Kit
or
Multiplex-PCR |
| 27 | Distal Arthrogryposis Syndrome:
R174Q | TNNI2 | RFLP or Sequencing |
| 28 | Dystrophic Epidermolysis Bullosa:
c.2767G>A (p.G923R), c.7371delC | COL7A1 | Sequencing |
| 29 | Factor V Leiden :
1691G>A | F5 | RFLP or Elisa Kit |
| 30 | Familial Dysautonomia:
2507+6T>C, R696P | IKBKAP | RFLP or Elisa Kit |
| 31 | Familial Exudative Vitreoretinopathy (FEVR):
c.542G>T (p.C181F) | TSPAN12 | Sequencing |
| 32 | Familial Mediterranean Fever (FMF):
V726A, M680I, M694V, M694I, E148Q, P369S | MEFV | RFLP or Elisa Kit or Sequencing |
| 33 | Fanconi Anemia type A:
2172/2173insG, c.4275delT | FANCA | RFLP or Elisa Kit |
| 34 | Fanconi Anemia type C:
IVS4+4A>T | FANCC | RFLP or Elisa Kit |
| 35 | Fragile-X:
Number of trinucleotide repeats | FMR1 | Genescan analysis |
| 36 | Frontoparietal Polymicrogyria:
c.1796_1800delTGCGCC/insAGATCCTGTGGGCA | GRP56 | Sequencing |
| 37 | Galactosemia:
c.152G>A (p.R51Q) | GALT | Sequencing |
| 38 | Gaucher Type 1:
84GG, IVS2+1, N370S, D409H, L444P, V394L | GBA | RFLP or Elisa Kit |
| 39 | Glycogen Storage Disease Type Ia (GSD Ia):
R83C | G6PT | RFLP or Elisa Kit |
| 40 | Glycogen Storage Disease Type III (GSD III):
4455delT | AGL | RFLP or Sequencing |
| 41 | Glutaric Acidemia IIc:
c.1084G>A (p.G362R) | ETFDH | Sequencing |
| 42 | Hereditary Non Polyposis Colon Cancer (HNPCC):
c.204delG | MSH2 | Sequencing |
| 43 | HMG (3-hydroxy, 3-methyglutaryl) COA Lyase Deficiency:
R41Q | HMGCL | RFLP |
| 44 | Hurler syndrome:
c.1184A>C (p.T366P) | IDUA | Sequencing |
| 45 | Hypochondroplasia:
c.1620C>A (p.N540K) | FGFR3 | Sequencing |
| 46 | Hypoparathyrodisim, retardation, dysmorphism:
c.155-166del | TBCE | Sequencing |
| 47 | Hypophosphatasia:
p.R450C (R433C), c.1171delC (c.1172delC) ... שם ישן
c.26C>A (p.A9N) | TNSALP | RFLP or Sequencing |
| 48 | Hypotricosis (AR):
c.280_369dup | LIPH | Sequencing or
Separating on sgarose gel |
| 49 | Infantile Cerbral and Cerebellar Atrophy:
c.1112T>C (p.L371P) | MED17 | Sequencing |
| 50 | Infantile Cerebellar-Retinal Degeneration:
c.336C>G (p.S112R) | ACO2 | Sequencing |
| 51 | Janus Kinase 2 (JAK2):
V617P | JAK2 | Sequencing
or Allele specific |
| 52 | Joubert Syndrome:
G1890X (שיבלי), c.164-167delCTCA | NPHP6 (CEP290) | RFLP or Sequencing |
| 53 | Joubert Syndrome 2:
c.35G>T (p.R12L) | TMEM216 | Sequencing |
| 54 | Lafora epilepsy, progressive myoclonic 2A:
c.108_139del | EPM2A | Sequencing
or
separating on agarose gel |
| 55 | Lebers:
exon12 del 4121-4130 , c.4005+1G>A | CRB1 | RFLP
or
Sequencing |
Lebers:
c.1495+2_1295+3insT | TULP1 |
Lebers:
c.985G>T (p.G329C) | CNGA3 |
| 56 | Limb Girdle muscular dystrophy (LGMD2B):
Ins23bp | DYSF (LGMD2B) | RELP |
| 57 | Limb Girdle muscular dystrophy (LGMD2C):
525delT | SGCG (LGMD2C) | PCR and Genescan |
| 58 | Lipoid Congenital adrenal hyperplasia:
(Steroidogenic Acute Regulatory protein)
R193X | STAR | RFLP |
| 59 | Maple Syrup Urine Disease (MSUD):
R183P | BCKDHB | RFLP |
| 60 | Maple Syrup Urine Disease (MSUD):
p.S133X | DBT | Sequencing |
| 61 | Meckel-gruber syndrome type 1 (MKS1):
Q350X | MKS1 | Sequencing |
| 62 | Meckel-gruber syndrome type 2 (MKS2):
c.47G>C (p.Gly16Ala) - מוטציה זו נקראת גם c.230G>C, p.Gly77Ala לפי שעתוק RNA אחר הרשום במאגר הגנטי. | TMEM216 | Sequencing |
| 63 | Meckel-gruber syndrome type 3 (MKS3):
c.4065+1delG (IVS10+1delG) | MKS3 | Sequencing |
| 64 | Imprinting Mentalretardation Dysmorphism Syndrome:
G236R | KNCK9 | RFLP or Sequencing |
| 65 | Metachromatic Leukodystrophy:
Q190H
p.P377L – נבדקת ביהודים ממוצא תימני. | ARSA | RFLP |
| 66 | Methylenetetrahydrofolate Reductase (MTHFR):
| MTHFR | RFLP or Elisa Kit |
| 677C>T c.474A>T (p.G158G)- יהודים בוכרים. |
| 67 | Metochondrial Depletion Syndrome (MDS):
c.542T>A (p.I181N) | TK2 | sequencing |
| 68 | Microcephaly, epilepsy, and diabetes syndrome:
c.79delT ו- c.62T>G | IER3IP1 | sequencing |
| 69 | Molybdenum Cofactor Deficiency type I (MoCoD):
c.971G>A (G324E) | MOCS1 | MOCS1 |
| 70 | Mucolipidosis IV (ML IV):
del(ex1-7), IVS3-2A>G | MCOLN1 | RFLP or Elisa Kit |
| 71 | Myopathy recurrent myoglobinuria mitochondrial:
c.1A>T (p.M1L) | FDX1L | Sequencing |
| 72 | Nemaline myopathy:
R2478_D2512del | NEB | RFLP |
| 73 | Nephrogenic Diabetes Insipidus (AR):
)c.298G>T (p.G100X) | AQP2 | sequencing |
| 74 | Nephrotic Syndrome Type 3 (NPHS3):
c.4463A>G (p.R1488P) | PLCE1 | sequencing |
| 75 | Neuronal Ceroid Lipofuscinosis type 7 (NCL):
c.472G>A (p.G158S) | MFSD8 | sequencing |
| 76 | Neuropathy & Striatal Necrosis:
c.373G>A (p.G125S) | SLC25A19 | sequencing |
| 77 | Nieman-Pick Type A:
L302P, delfsP330, R496L
677delT | SMPD1 | RFLP |
| 78 | Nieman-Pick Type C:
c.2279_2281delTCT | NPC1 | Sequencing |
| 79 | Non syndromic deafnes- Connexin 26:
35delG, 167delT, W77R, V37I, R184P, 101delGAG, IVS1+1G>A | GJB2 | Allele specific PCR
or RFLP
or sequencing |
| 80 | Non syndromic deafnes- Connexin 30:
del(DJB6-D13S1830) | GJB6 | Allele specific PCR |
| 81 | Non syndromic deafnes:
c.1810C>T (R604X), c.1939T>C (S647P) | TMC1 | Sequencing |
| 82 | Nonketotic hyperglycinemia:
H42R | NKH | RFLP |
| 83 | Nuclear receptor Co-Repressor 2:
c.52C>T (p.R18C) | NCOR2 | Sequencing |
| 84 | Oculopharyngeal Muscular Dystrophy (OPMD):
Expansion of GCG repeats | PABP2 | Genescan |
| 85 | Osteogenesis Imperfecta Type VII (OI7):
c.793+1G>T (IVS3+1G>T) | CRTAP | Sequencing |
| 86 | Pelizaeus-Merzbacher-like disease (PMLD)-HSP60:
D29G (g.1512A>G) | HSPD1 | Sequencing |
| 87 | Pendred syndrome:
c.1197del T | PDS | Sequencing |
| 88 | Pompe disease:
p.L355P, p.D404N | GAA | Sequencing |
| 89 | Pramyotonia congenital:
c.4343G>A (R1448H) | SCN4A | Sequencing |
| 90 | Primary hyperoxaluria type I:
849G>C (D243H), IVS2+1G>A (480+1G>A)
c.997A>T (p.R333X) | AGXT | RFLP |
| 91 | Progressive Cerebello-Cerebral Atrophy (PCCATR):
c.715G>A (p.A239T), c.1001A>G (p.Y334C) | SepSecS | Sequencing |
| 92 | Progressive myoclonic epilepsy:
c.108_139del | EPM2A | Sequencing |
| 93 | Progressive Rod-Cone Degeneration (PRCD):
R22X (c.64C>T) | PRCD | RFLP |
| 94 | Propionic acidemia (PCCA):
Exon1 del 26-37 | PCCA | Sequencing |
| 95 | Prothrombin (Factor II):
20210G>A | F2 | RFLP or Elisa Kit |
| 96 | Pseudorheumatoid Dysplasia:
c.535-536delTG | WISP3 | RFLP or sequencing |
| 97 | Pycnodysostosis disease:
X330W | CTSK | RFLP |
| 98 | QF-PCR
בדיקת אנפלואדיות של כומוזומים: 13, 18, 21 X, Y | Chr. 13, 18, 21, X, Y | GeneScan |
| 99 | Refsum disease:
c.959C>T (p.S320F) | PEX12 | Squencing |
| 100 | Renal Tubular Acidosis (RTA):
IVS3-1G>A | ATP6V1B1 | Squencing |
| 101 | Retinitis Pigmentosa (RP):
c.187+1G>T | PDE6G | Squencing |
| 102 | Retinitis Pigmentosa (RP):
c.377C>T (p.A126V) | RDH12 | Squencing
RFLP |
| 103 | Sandhoff disease:
IVS8+5G>A(c.1082+5G>A) | HEXB | Squencing |
| 104 | Sequencing of known genes: | FOXC2 | Squencing |
| PDS (Pendred syndrome) |
| TMEM70 |
| ECGF1 (MNGIE syndrome) |
| SLC25A15 (HHH syndrome) |
| FAM20C |
| ARX |
| STAR |
| PTEN |
| 105 | Severe Combined Immune deficiency, AR (SCID):
c.1361T>A (p.L454Q) | RAG1 | Squencing |
| 106 | Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis yndrome (SOFT):
c.512T>C (p.L171P) | POC1A | Squencing |
| 107 | Smith-Lemli opits syndrome (SLO):
755A>G (N252S) | DHCR7 | Squencing |
| 108 | Spinal Muscular Atrophy (SMA):
Deletion of exon 7 and 8 | SMN1
SMN2 | MALPA and GenScan |
| 109 | Spastic ataxia, Charlevox-Saguenay type:
7312delAG | SACS | Sequencing |
| 110 | Spastic paraplegia:
Q40X (c.118C>T) | SPG11 (KIAA1480) | Sequencing |
| c.5456delAG |
| c.4339C>T (p.Q1447X) |
| 111 | Spastic paraplegia:
c.6702_6771del | SPG15 (ZFYVE26) | RFLP or sequencing |
| 112 | Spondylocostal dysostosis:
593insGCGGT | DLL3 | Sequencing |
| 113 | Tay-Sachs:
1278insTATC, IVS12+1G>C, G269S (805G>A),
IVS5-2G>A, DeltaF304/305, R170Q | HEX A | RFLP or Elisa Kit or Genescan |
| 114 | Thalassemia:
IVS1-110, N37, Sickle cell | HBB | RFLP |
| 115 | Thyroid peroxidase:
Exon 10: 1708C>T (R540X), Exon 9: 1567G>A (G493S) | TPO | RFLP or Sequencing |
| 116 | TSH Resistance (TSHR) syndrome- Hyperthyropinemia:
Exon 2: P68S, Exon 10: L653V | TSHR | RFLP or Sequencing |
| 117 | UPD:
Chr 7, 14, 15, 16 | | GeneScan |
| 118 | Usher syndrome type I:
R245X | PCDH15 | RFLP or Elisa Kit |
| 119 | Usher syndrome:
c.1134-1146dup | MYO7A | Sequencing |
| 120 | Usher syndrome 2A:
c.239-240insGTAC | USH2A | Sequencing |
| c.2209C>T (p.R737X) |
| c.5519G>T (p.RG1840V) |
| 121 | Usher syndrome 3A:
c.144T>G (p.N48K) | USH3A | Sequencing |
| 122 | Warburg Micro Sybdrom:
c.2386G>A (p.E796K) | RAB3GAP1 | Sequencing |
| 123 | Wiskott Aldrich syndrome:
G153T | WASP | RFLP |
| 124 | Wolfram-like syndrome, autosomal dominant:
c.2590G>A (p.E864K) | WFS1 | Sequencing |
