Biochemistry
| Full details for "Genetic Test for the Acute Porphyrias". | |
|---|---|
Name |
Genetic Test for the Acute Porphyrias |
Alternative name/Profile |
Acute intermittent porphyria, AIP, HMBS, Hereditary coproporphyria, HCP, CPOX, Variegate porphyria, VP, PPOX, |
Department |
Biochemistry |
Investigation |
"Post biochemical diganosis of an Acute porphyria in a proband, genetic screening of the gene associated with the porphyria is performed to detect the genetic variant so as to establish a genetic diagnoisis and allow subsequent cascade screening of family members. Acute intermittent porphyria (AIP): HMBS gene Hereditary coproporphyria (HCP): CPOX gene Variegate porphyria (VP): PPOXgene" |
Specimen type |
3ml Purple EDTA Blood tube EDTA samples should be sent as soon as possible and the time/date of collection clearly noted on the request form. If any delay in the transport of samples is anticipated, EDTA samples should be left unspun and refrigerated. |
Sample type |
|
Sample container & volume |
EDTA 3ml |
Frequency of analysis |
As required |
Turnaround time |
Mutation scan 60 days Mutation screen 30 days |
Availability |
SPECIALISED GENETIC TESTS - ALL REQUESTS MUST BE DISCUSSED WITH CONSULTANT CHEMICAL PATHOLOGIST/ Specialist registrar prior to sending to SJH , PLEASE CONTACT as per details below. |
Notes |
Referred to: Biochemical genetics, |
Related links |
Biochemical genetics request form must be completed along with genetic consent form. |
Reference range |
N/A |
Last updated |
Thu, 04 Apr 2024 16:01:38 IST |