An AIRE gene sequencing test can be performed to
diagnose Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) and other
related conditions.
Details
Description
Test Code: GM1150
Technique: Next
Generation Sequencing
Sample: Submit 5 mL (3mL
min.) Whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT
FREEZE
Transportation
Temperature: 2-8℃
Sample Collection
Instruction: Minimum 3ml of peripheral blood; minimum 1 microgram of DNA
(concentration of 50-100ng/microliters); 300-500mg of CVS; Amniotic fluid of
15-20ml/T25 culture flask with 100% confluency. For Dried Blood Spots (FTA
Cards) - Maximum 125 of the sample to be spotted per area of the card. Five
full blood spots (circles) are required in order to run the test. For Product
of Conception (POC) - Fresh placental or fetal tissue (Min: 5 mg) submerged in
stable transport media or sterile saline.
1.In case of autopsy-
skin or tissue from internal organs (if fresh) or placenta from fetal side.
2. If no autopsy is
performed: Placenta from fetal side is preferred (e.g. villi)
3. In case of Placenta,
maternal cell contamination to be ruled out. Maternal blood sample to be sent
along for MCC testing Should NOT FREEZE. Should NOT be placed in formalin.
Genetic history and
doctor’s prescription is mandatory. Duly filled Next Generation Sequencing
Consent Form.
Reported on: 21st
Working Day by 7:00 p.m
Precaution
Clinical History of Patient who is going for
AIRE Gene Autoimmune polyendocrinopathy syndrome type 1 NGS Genetic Test.