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Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000611984.2
Last updated in GTR: 2023-09-28
Last annual review date for the lab: 2023-08-10 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency; Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene; Glutamate-cysteine ligase deficiency; ...
ADA (20q13.12), AK1 (9q34.11), ALDOA (16p11.2), BPGM (7q33), CYB5R3 (22q13.2), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
Lab contact: Help
Mayka Sanchez, PhD, Lab Director
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
Please write an email to
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:
Conditions Help
Total conditions: 12
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 17
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Practice guidelines for the Interpretation and Reporting of Unclassified Variants (UVs) in Clinical Molecular Genetics. Prepared and edited by Jennie Bell, Danielle Bodmer, Erik Sistermans and Simon C Ramsden

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. We systematically (every 6-8 months) re-evaluated the data and re-contact the physician in case of new pathogenic findings
Is research allowed on the sample after clinical testing is complete? Help
In interesting cases, we perform research after clinical testing is complete and we require a research consent inform for that purpose
Recommended fields not provided:
Technical Information
Test Confirmation: Help
If we found a pathogenic variation, we perform an independent analysis to confirm the finding
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99.9%. If we found a pathogenic variation, we perform an independent analysis to confirm the finding
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Software used to interpret novel variations Help

Laboratory's policy on reporting novel variations Help
Novel variations suspected to be pathogenic are included in the routine reports. VUS are also reported. Non pathogenic variations are NOT reported as well as VUS with MAF>3%
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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