|
7ml |
510364
J1040 |
Achondroplasia
FGFR3/G380R |
|
7ml
Iran |
510169
J1051 |
Achromatopsia
CNGA3/V529M |
|
7ml
North Africa |
5100695
J0881 |
Adrenal Hyperplasia
11β Hydroxylase/ R448H |
|
7 ml* |
510326
J1070
|
Angelman Syndrome
15q11-1/Deletion;UPD;methylation |
|
7ml
אירן |
510885
J1081 |
APECED
AIRE/Y85C |
|
7ml
North Africa
Palestinians |
510559
J0671 |
Ataxia Telangiectasis
ATM1/R35X;2284del2;
497del17kb |
|
7 ml* |
510328
J1100 |
Beckwith Wiedemann Syndrome
11p/UPD;methylation |
|
7ml
Ashkenazim Jews |
510245
J1111
|
Bloom Syndrome
RECQL3/
2281del6ins7 |
|
7ml
Oncogenetic Counselling |
510318
J1311
510201 |
Breast Cancer
BRCA1/ 185delAG;5382insC;3053C>T
BRCA2/6174delT;8765delAG;
4093del4 |
|
7ml
Ashkenazim Jews |
510382
J0031 |
Canavan Disease
ASPA/G285A;Y231X |
|
7 ml* |
510324
J0681
|
Charcot Marie Tooth
(CMT1A)
Chromosome 17p11.2/duplication |
|
7ml
Abu Gosh |
510885 |
Congenital Nephrotic Syndrome NPHS/2160insC;Q380X |
|
7 ml**
Lybia |
510108
J999 |
Creutzfeld-Jacob Disease (CJD)
PRNP/Exclusion test |
|
7ml
North Africa |
510322/
068510
J0211 |
CerebroTendinous
Xanthomatosis (CTX)
CYP27/720delT;IVS4-1G>A;T306M |
|
7ml |
510315
J1140 |
Cystic Fibrosis CFTR/W1282X;∆F508;
G542X;
N1303K;3849+10kbC>T;17171G>A;405+1G>T;S549RT>G ;W1089X;
Y1092X;G85E; I1234V;2751+1insT;
3121-1G>A;Q359k; 4010del4;R75X;2183AA>G;
3120del8.6kb;C225X; Del2; 1677delTA |
|
7ml
North Africa |
510885
|
Cystinosis
CTNS/G339R |
|
7ml |
510430
J0720 |
Torsion Dystonia (DYT1)
TOR1/delGAG |
|
7ml
Ashkenazim Jews |
510162
J0991 |
Fanconi Anemia
FANC/IVS4+4A>T |
|
7ml
Ashkenazim Jews |
510885
J0710 |
Familia Dysautonomia
IKBKAP/IVS20+6T>C; R696P |
|
7ml |
510316
J1271
|
Familial Mediterranean Fever (FMF)
MEFV/M694V;M694I;V726A;E148Q;M680I; K695R |
|
7 ml*** |
510327
J9900 |
Fragile X Syndrome (FRAXA)
FMR1/CGG repeats |
|
7 ml |
510435
J0830 or J0750 |
Friedrich Ataxia
FRATAXIN/GAA repeats |
|
7ml |
510975
J0061 |
Glycogen Storage Disease
(GSD1a) G6Pase/R83C |
|
7ml |
510317
J1151
|
Hearing Loss
GJB2;GJB6/167delT;35delG;
delCNX30
Mitochondrial1555A>G |
|
7 ml
Onco
Genetic Counselling |
510049
510492
510201 |
Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
MSH2/1906G>C MSI
(MSH6; MLH1) |
|
7 ml* |
510023
J0740 |
Hereditary Neuropathy with liability to Pressure Palsies (HNPP)
Chromosome 17p11.2/deletion |
|
7ml |
510329 510435or
J0750 |
Huntington disease
Huntingtin/CAG repeats |
|
7ml |
510885
J0221 |
Hypercholesterolemia |
|
7ml |
510329 |
Kennedy Disease (SBMA)
AR/CAG repeats |
|
7 ml* |
510652
J0790 |
Myotonic Dystrophy (MD1)
DM1/CTG repeats |
|
7 ml |
510323 |
Myotonic Dystrophy (MD2)
ZNF9/CCTG repeats |
|
7ml
Palestinians |
510885
|
Nephrotic Syndrome Steroid resistant
PODOCIN/R138X |
|
7 ml** |
510325
J9991 |
Neurofibromatosis NF1
NF1/Linkage; deletion |
|
7ml
A-Tour
Village |
510885
J0071 |
Non-Ketotic Hyperglycinemia
(NKH)
GLDC/M1T |
|
7 ml** |
510069
J9991
|
Poly-Cystic Kidneys Disease
PKD1 (dominant); PKHD1
(recessive)/ linkage |
|
7 ml* |
510326
J1070 |
Prader-Will6y Syndrome (PWS)
15q11-13/Deletion;UPD;methylation |
|
10 ml* |
510819
J0860 |
Retinoblastoma
RB1/Deletion;sequencing |
|
7 ml* |
510331 |
Russel Silver Syndrome
Chromosome 7; 11/UPD; methylation |
|
7ml |
510329
J0830
|
Spino Cerebellar Ataxia (SCA)
SCA1;SCA2;SCA3;SCA6;SCA7;
DRPLA/
CAG repeats |
|
7 ml* |
510444
J0820 |
Spinal Muscular Atrophy (SMA)
SMN1 deletion |
|
7 ml* |
510331 |
Transient Neonatal Diabetes Chromosome 6/ duplication |
|
7ml
Ashkenazim Jews |
510040
|
Asher Syndrome
PCDH15/R245X |
|
7ml** |
510069
J9991 |
Waardenburg Syndrome
PAX 3/;linkage |
|
7 ml |
510331 |
X Chromosome Inactivation |
|
7 ml |
510321 |
Deletion in Y Chromosome |
|
|
510260 |
DNA Extraction |
|
|
510322
510068 |
Molecular Test for a
Known Mutation |
|
|
510885
J3011 |
A Familial Mutation |
|
|
510331 |
Complex Molecular Test |
|
|
510163 |
QFPCR |
|
|
510069
510865
9991J |
Linkage Analysis |