AIRE Gene Sequencing

An AIRE gene sequencing test can be performed to diagnose Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1) and other related conditions.

Details

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