כללית שלי
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

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​