Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive - Clinical Genetic Test - GTR

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Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

Clinical Genetic Test

offered by

Department of Clinical Immunology

GTR Test Accession: GTR000500279.1

IMMUNOLOGYINHERITED DISEASE

Registered in GTR: 2012-12-05

Last annual review date for the lab: 2023-06-12 Past due

At a Glance

Test purpose:

Diagnosis

Conditions (1):

Severe combined immunodeficiency disease

Genes (2):

RAG1 (11p12); RAG2 (11p12)

Methods (1):

Molecular Genetics - Sequence analysis of the entire coding region: Uni-directional Sanger sequencing

Target population:

Not provided

Clinical validity:

Not provided

Clinical utility:

Establish or confirm diagnosis

Ordering Information

Offered by:

Department of Clinical Immunology

Test short name:

SCID T-B-NK+

Specimen Source:

Chorionic villi
Cord blood
Fetal blood
Isolated DNA
Peripheral (whole) blood
Plasma
White blood cell prep

Who can order:

Health Care Provider

Test Order Code:

RAG1 & RAG2

Contact Policy:

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:

by email

Test service:

Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: specify by order
Confirmation of research findings
    Comment: specify by order
Custom Sequence Analysis
    Comment: specify by order

Test additional service:

Custom Prenatal Testing
Custom mutation-specific/Carrier testing

Test development:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Yes

Pre-test genetic counseling required:

Yes

Post-test genetic counseling required:

Yes

Recommended fields not provided:

Lab contact for this test, Test strategy

Conditions

Total conditions: 1

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 2

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 1

Method Category

Test method

Instrument

Sequence analysis of the entire coding region

Uni-directional Sanger sequencing

ABI3130XL

Clinical Information

Test purpose:

Diagnosis

Clinical utility:

Establish or confirm diagnosis

View citations (1)

http://omim.org/entry/601457

Variant Interpretation:

What is the protocol for interpreting a variation as a VUS?
finding will be reported and suggested significance specified

Will the lab re-contact the ordering physician if variant interpretation changes?
Yes.

Recommended fields not provided:

Clinical validity, Target population, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report

Technical Information

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

90-100

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Inter-Laboratory

PT Provider:
European Molecular Genetics Quality Network, EMQN

VUS:

Software used to interpret novel variations
SeqScape

Laboratory's policy on reporting novel variations
finding will be reported and suggested significance specified

Recommended fields not provided:

Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Category: Not Applicable

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Practice guidelines:

Consumer resources:

NCATS Office of Rare Diseases Research (GARD)

MedlinePlus

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.