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QualiGene has established its DNA sample collection of genetic diseases and disorders from various ethnic groups in Israel and the Middle East.
Anonymous blood samples were obtained from consenting volunteers after they completed a health questionnaire (the only information provided to the company about the samples is the gender and ethnic origin of the donor). Lymphocytes were separated from whole blood, and were infected with EBV to produce an immortal cell-line carrying a specific mutation. These cell-lines are a sustainable source for DNA which can be produced upon request and may be used for DNA control samples and other molecular genetic studies and research.
QualiGene’s sample collection has received the approval of the Helsinki Committee and Israeli Ministry of Health.
Our DNA collection is continuously being expanded with additional samples. We are happy to receive queries about genotypes that do not appear on our website. We may be interested in expanding our collection with new samples provided by you – in case you can provide us either blood or DNA from consenting adults with specific mutations.
Cat. no | Disease | Gene | Genotype |
---|---|---|---|
QG3822 | Alpha-1Antitrypsin Deficiency | SERPINA1 | c.[863A>T];[=] |
QG4822 | Alpha-1Antitrypsin Deficiency | SERPINA1 | c.[1096G>A];[=) |
QG 1222 | Apolipoprotein E | APOE | E3 ; E3 |
QG 1422 | Apolipoprotein E | APOE | E3 ; E2 |
QG 1722 | Apolipoprotein E | APOE | E3 ; E4 |
QG 922 | Ataxia Telangiectasia (ATM) | ATM | c.[103C>T];[=] |
QG 4222 | Bloom Syndrome | BLM | c . [2207_2212delinsTAGATIC];[=] |
QG 2122 | Breast and Ovarian Cancer | BRCA2 | c.[5946delT];[=] |
QG 1622 | Canavan | ASPA | c.[854A>C];[=] |
QG 722 | Costeff Optic Atrophy Syndrome | OPA3 | c . [143-1G>CJ;[=] |
QG 5022 | Cystic Fibrosis (CF) | CFTR | c.[3717+12191C>T];[=] |
QG 222 | Cystic Fibrosis (CF) | CFTR | c . [2989-1G>A];[=] |
QG 2522 | Cystic Fibrosis (CF) | CFTR | c.[3454G>C];[=] |
QG 3022 | Cystic Fibrosis (CF) | CFTR | c.[1521_1523delCTT];[=] |
QG 3522 | Cystic Fibrosis (CF) | CFTR | c.[1647T>G];[=] |
QG 3622 | Cystic Fibrosis (CF) | CFTR | c.[3909C>G];[3909C>G] |
QG 3722 | Cystic Fibrosis (CF) | CFTR | c . [3909C>G];[=] |
QG 4022 | Cystic Fibrosis (CF) | CFTR | c . [1624G>T];[=] |
QG 4622 | Cystic Fibrosis (CF) | CFTR | c . [3846G>A];[=] |
QG 522 | Cystic Fibrosis (CF) | CFTR | c . [3882 _ 3885delTATT];[=] |
QG 1722 | Cystic Fibrosis (CF) | CFTR | c . [273+1G>A];[=] |
QG 5422 | Cystic Fibrosis (CF) | CFTR | c.[3120+1Kbdel8.6Kb];[=] |
QG 1522 | Cystinuria - non Type I | SLC7A9 | c . [508G>A];[508G>A] |
QG 3522 | Familial Mediterranean Fever (FMF) | MEFV | c . [442G>C];[=] |
QG 822 | Familial Mediterranean Fever (FMF) | MEFV | c.[2177T>C];[=] |
QG 1022 | Fanconi Anemia C | FANCC | c.[456+4A>T];[=] |
QG 1322 | Fragile X | FMR1 | - 128CGG[65];[30] |
QG 2333 | Fragile X | FMR1 | - 128CGG[63];[30] |
QG 3433 | Fragile X | FMR1 | - 128CGG[470];[30] |
QG 333 | Gaucher | GBA | c.[1226A>G];[=] |