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Results: 1 to 20 of 28 (representing 16 labs)

Tests names and labsConditionsGenes and analytesMethods

Maple syrup urine disease type 1b

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

BCKDHB Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

BCKDHB Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

BCKDHB Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis

BCKDHB Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ashkenazi Jewish diseases

Asper Biotech Asper Biotech Ltd.
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
11692
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Maple syrup urine disease, type Ib

VU University Medical Center Metabolic Unit, PX 1X 009
Netherlands
11
  • C Sequence analysis of the entire coding region

Maple Syrup Urine Disease, Type 1B (BCKDHB), 3 Variants

ARUP Laboratories, Molecular Genetics and Genomics
United States
11
  • T Targeted variant analysis

Family Prep Screen

Counsyl
United States
112110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Maple Syrup Urine Disease Panel

Invitae
United States
23
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Metabolic Disorders Newborn Screening Confirmation Panel

Invitae
United States
11790
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated Leucine Panel

Invitae
United States
45
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Organic Acidemias Panel

Invitae
United States
3431
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inheritest NGS, Comprehensive

Integrated Genetics Westborough Integrated Genetics
United States
136141
  • T Targeted variant analysis

Maple Syrup Urine Disease

Integrated Genetics Westborough Integrated Genetics
United States
22
  • T Targeted variant analysis

Ashkenazi Jewish Carrier Testing

Integrated Genetics Westborough Integrated Genetics
United States
1919
  • T Targeted variant analysis

Inheritest NGS, Ashkenazi Jewish Ancestry Panel

Integrated Genetics Westborough Integrated Genetics
United States
4039
  • T Targeted variant analysis

BCKDHB Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.

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