גנטיקה

יצירת קשר

​טלפון המרפאה: 04-6495446
טלפון המעבדה: 04-6495416
פקס: 04-6494425, 04-8141561 (דרך עדיפה לזימון פגישה)
מייל: gent_zim@clalit.org.il

שעות פעילות

​א'-ה' בין השעות 8:00-15:00
*קבלת קהל: על פי זימון טלפוני

מיקום

​בניין מספר 1, בניין מרכזי, קומת קרקע (בקרבת הקפיטריה)

בדיקות גנטיות לבירור טרומבופיליה

מנהלת המכון פרופ' סתוית אלון - שלו

בדיקות גנטיות במסגרת ייעוץ רפואי במכון לגנטיקה

הבירור לקרישיות יתר בדם (טרומבופיליה) הוא רחב ומורכב, והבדיקות הנדרשות קשורות למספר נושאים רפואיים, ומתבצעות במספר מעבדות שונות: המטולוגיה, אימונולוגיה, כימיה וגם גנטיקה.
במעבדה לגנטיקה מתבצעות כיום מספר בדיקות במסגרת זו:
• המוטציה 20210G>A בגן של פקטור 2 (פרוטרומבין)
• המוטציה 1691G>A בגן של פקטור 5
• המוטציה 677C>Tבגן של MTHFR.
• השינוי c.833T>C בגן CBS
• השינוי 4G/5G polymorphism בפרומוטור של הגן PAI-1 

רשימת בדיקות המבוצעות במעבדה לגנטיקה מולקולרית

 

מס'​​שם הבדיקה והמוטציות הנבדקותגן​​שיטת הבדיקה
1​Achondroplasia:
c.1138G>A, c.1138G>C (p.G380R)​
FGFR3Sequencing​
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​
61Meckel-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​