MUTHEMO
GENE MUTATION PANEL
Description:
HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS
Aliquot Size:
10 µg each
| Catalog ID | Sex | Age at Sampling | Family | Relationship | Gene | Mutation | Affected |
| NA14650 | Female | 21 YR | 1780 | sister | F5, HFE | 20009404T>C (Mono), c.187C>G (p.HIS63ASP) (Mono), CYS282TYR (Mono) | No |
| NA06160 | Male | 25 YR | 1030 | proband | HFE, MTHFR | 677C>T (Mono), CYS282TYR (Mono) | No |
| NA16028 | Female | 64 YR | | proband | F2, F5, HFE, MTHFR | 20009404T>C (Mono), 20210G>A (Mono), 677C>T (Mono), SER65CYS (Mono) | |
| NA14631 | Female | 49 YR | | proband | HFE | CYS282TYR (Bi) | Yes |
| NA16000 | Female | 33 YR | | proband | F2, HFE, MTHFR | 20210G>A (Bi), 677C>T (Mono), c.187C>G (p.HIS63ASP) (Mono) | Yes |
| NA13591 | Female | 32 YR | | proband | CFTR, HFE, MTHFR | 677C>T (Mono), ARG117HIS (Mono), c.187C>G (p.HIS63ASP) (Bi), PHE508DEL (Mono) | Yes |
|
|
|