NHEJ1 Gene Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NGS Genetic DNA Test - Clinical Genetic Test - GTR

NHEJ1 Gene Severe combined immunodeficiency with microcephaly, growth retardation, and … see more NHEJ1 Gene Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NGS Genetic DNA Test see less

Clinical Genetic Test

offered by

DNA Labs India

View lab's test page

GTR Test Accession: GTR000606548.1

INHERITED DISEASE

Registered in GTR: 2023-04-27

Last annual review date for the lab: 2024-07-01

At a Glance

Test purpose:

Screening

Conditions (1):

Hereditary disease

Genes (1):

NHEJ1 (2q35)

Methods (1):

Molecular Genetics - Mutation scanning of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)

Target population:

Patients with rare disease condition

Clinical validity:

This panel should be performed in all individuals suspected of …

Clinical utility:

Not provided

Ordering Information

Offered by:

DNA Labs India
View lab's website
View lab's test page

Test short name:

NHEJ1 Gene Severe combined immunodeficiency with microcephaly, g

Manufacturer's name:

NHEJ1 Gene Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NGS Genetic DNA Test

Lab contact:

Ravi Kiran Reddy P, PhD, Lab Director
[email protected]
+91 40 39517864

How to Order:

Just place order online with doctor prescription
Order URL

Test development:

FDA-reviewed (has FDA test name)

Informed consent required:

Yes

Pre-test genetic counseling required:

Yes

Post-test genetic counseling required:

Yes

Recommended fields not provided:

Test Order Code, Specimen source, Contact policy, Test strategy

Conditions

Total conditions: 1

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 1

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

Methodology

Total methods: 1

Method Category

Test method

Instrument

Mutation scanning of the entire coding region

Next-Generation (NGS)/Massively parallel sequencing (MPS)

Illumina HiSeq™2000 system

Clinical Information

Test purpose:

Screening

Clinical validity:

This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk … View more

Target population:

Patients with rare disease condition

Recommended fields not provided:

Clinical utility, 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 Procedure:

Human Whole Exome Sequencing

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Accuracy and specificity>99%

Proficiency testing (PT):

Is proficiency testing performed for this test?
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:

Not provided

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Practice guidelines:

Consumer resources:

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.