| OTHER BENIGN HAEMATOLOGICAL DISORDERS |
| B5088 |
GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) Mutation Screening
Mutation screening in the coding regions of the G6PD gene by DNA sequencing. |
9 mL of EDTA anticoagulated
peripheral blood (purple top) tube. Stored at 4°C. |
| B5051 |
Gilbert's Syndrome – UGT1A1 polymorphism screening.
Screening of the (TA) repeats polymorphism causing Gilbert’s Syndrome in the UDP-glucuronyl transferase 1A1 (UGT1A1) gene by PCR & capillary electrophoresis. |
9 mL of EDTA anticoagulated
peripheral blood (purple top) tube. Stored at 4°C. |
| B5069 |
Hereditary Haemochromatosis Mutation Screening
Screening of mutations in genes involved in the hepcidin regulatory pathway by DNA sequencing.
1. Mutation screening of HFE gene.
2. Mutation screening of HFE2 (HJV) gene.
3. Mutation screening of HAMP gene.
|
9 mL of EDTA anticoagulated
peripheral blood (purple top) tube. Stored at 4°C. |
| B5086 |
Osteopetrosis- Mutation Screening
The following genes are screened by DNA sequencing in patients with osteopetrosis.
1. Mutation screening of TCIRG1 gene
2. Mutation screening of CLCN7 gene
3. Mutation screening of RANK (TNFRSF11A) gene
4. Mutation screening of RANKL (TNFSF11A) gene
|
9 mL of EDTA anticoagulated
peripheral blood (purple top) tube. Stored at 4°C. |
| B5060 |
ELA2 MUTATION SCREENING
ELA2 gene mutations screening for cyclical neutropenia by DNA sequencing.
1. ELA2 Gene - Promotor and Exons 1-5 are analyzed
|
9 mL Peripheral blood in EDTA (Purple top) tube. Stored at 4°C. |
| B5087 |
TERC Gene mutation analysis
Telomere RNA component (TERC) gene mutations screened by DNA sequencing in patients suspected with dyskeratosis congenita and inherited aplastic anaemia.
|
9 mL of EDTA anticoagulated
peripheral blood (purple top) tube. Stored at 4°C. |
| B5078 |
FANCONI ANEMIA
1. FANCD2 - Western Blotting - Peripheral blood culture.
(FANCD2 ubiquitination analysis by western blotting for diagnosis of Fanconi anemia in peripheral blood culture.
|
9 mL of Heparin anticoagulated (green top tube)
*Samples should be sterile& fresh *Do not freeze/fix. |
| B5079 |
FANCONI ANEMIA
2. FANCD2 - Western Blotting - SFC (Skin fibroblast culture)
(FANCD2 ubiquitination analysis by western blotting for diagnosis of Fanconi anemia in skin fibroblast cultures.)
|
Skin biopsy in 5ml sterile culture medium / sterile PBS.
*Samples should be sterile& fresh* Do not freeze/fix |
