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Sickle Cell Analysis
Clinical Genetic Test
Help
offered by
Integrated Genetics Westborough
GTR Test Accession: Help GTR000613285.1
INHERITED DISEASEHEMATOLOGYSYNDROMIC DISEASE ... View more
Registered in GTR: 2024-07-16
View version history
Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (2): Help
Hb SS disease; Sickle cell-hemoglobin C disease
Genes (1): Help
HBB (11p15.4)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Integrated Genetics Westborough
View lab's website
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:
Test Order Code, How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
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 *
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
HbS (c.20A>T, p.Glu7Val) and HbC (c.19G>A, p.Glu7Lys)pathogenic variants are identified by Sanger sequencing,capillary gel electrophoresis and fluorescence detection
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test is greater than 99% sensitive for detecting the targeted mutation(s) specified.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
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

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