BCKDHB Gene Maple syrup urine disease type 1b NGS Genetic … see more BCKDHB Gene Maple syrup urine disease type 1b NGS Genetic DNA Test  see less
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000607236.1
INHERITED DISEASE
Last updated in GTR: 2023-04-27
Last annual review date for the lab: 2023-04-24 Past due LinkOut
At a Glance
Screening
Hereditary disease
Genes (1): Help
BCKDHB (6q14.1)
Molecular Genetics - Mutation scanning of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Patients with rare disease condition
This panel should be performed in all individuals suspected of …
Not provided
Ordering Information
Offered by: Help
Test short name: Help
BCKDHB Gene Maple syrup urine disease type 1b NGS Genetic DNA Te
Manufacturer's name: Help
BCKDHB Gene Maple syrup urine disease type 1b NGS Genetic DNA Test
Lab contact: Help
Ravi Kiran Reddy P, PhD, Lab Director
info@dnalabsindia.com
+91 40 39517864
How to Order: Help
Just place order online with doctor prescription
Order URL
Test development: Help
FDA-reviewed (has FDA test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Conditions Help
Total conditions: 1
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
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Clinical Information
Test purpose: Help
Screening
Clinical validity: Help
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: Help
Patients with rare disease condition
Recommended fields not provided:
Technical Information
Test Procedure: Help
Human Whole Exome Sequencing
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy and specificity>99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
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.