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Sickle Cell Disease Mutation Analysis
Clinical Genetic Test
Help
offered by
Molecular Diagnostics Lab
GTR Test Accession: Help GTR000613128.1
HEMATOLOGYINHERITED DISEASESYNDROMIC DISEASE ... View more
Registered in GTR: 2024-01-04
View version history
Last annual review date for the lab: 2024-02-15 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (2): Help
Hb SS disease; Sickle cell-hemoglobin C disease
Genes (1): Help
HBB (11p15.4)
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Target population: Help
General population with clinical diagnosis of disease
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostics Lab
View lab's website
Test short name: Help
SCD
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
SCD
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Patient samples should be shipped via overnight delivery at room temperature. Each specimen should be labeled with the patient’s name, date of birth and date of sample collection.
No weekend or holiday deliveries.

Send specimens with a completed sample requisition form, otherwise, specimen processing may be delayed.

Specimen …
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Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
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:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 2
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
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Target population: Help
General population with clinical diagnosis of disease
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Hb S (c.20A>T; p.Glu7Val) Hb C (c.19G>A; p.Glu7Lys)
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity is approximately 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
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.