Autoimmune lymphoproliferative syndrome (ALPS); FAS Sequencing
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000551638.1
IMMUNOLOGYINHERITED DISEASECANCER ... View more
Registered in GTR: 2016-08-17
Last annual review date for the lab: 2024-02-05 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Autoimmune lymphoproliferative syndrome type 1
Genes (1): Help
FAS (10q23.31)
Molecular Genetics - Mutation scanning of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Center for Comprehensive Genetic Services
View lab's website
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Isolated DNA
  • Peripheral (whole) blood
  • White blood cell prep
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
The health care providers can call/email the lab to get sign-up package and test requisition form.
Order URL
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Mutation scanning of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sensitivity of DNA sequencing is over 99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.