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Laboratory Test Directory

FAS Sanger Sequencing

Components

Name Method Department Units
FAS Sanger Sequencing Bi-directional sequence analysis
Send Out Genetics

Battery Members

Bidirectional Sanger sequencing using genomic DNA of all coding exons of the FAS gene plus ~10 bp of flanking non-coding DNA on each side

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

6 mL 5 mL
Alternate

Yellow tube (ACD)

8 mL 5 mL
Stability

Room temperature - 48 hour(s)
Refrigerated - 1 week(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze
  • Transport to laboratory as soon as possible

Reasons for Rejection

  • Centrifuged specimen
  • Wrong collection tube
  • Frozen specimen
  • Clotted specimen
  • Delayed or improper handling

Comments

Mutations in the FAS gene are associated with Autoimmune Lymphoproliferative Syndrome (ALPS). Homozyous and compound heterozygous mutations in the FAS gene have been reported in individuals with ALPS with severe diesase. Somatic mutations have also occured leading to disease.

Indications for Test: Elevated double negative (CD4-CD8-) alpha/beta T cells in blood, elevated plasma IL-10, and Coomb's Test positive are indications for ALPS. Defective lymphocyte apoptosis and elevated IgA, IgG, and IgM antibody levels are also indicative for ALPS. Strongest candidates have a family history for ALPS.

Complete the attached test requisition and submit with the specimen.

CPT Code

  • 81479