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Results: 1 to 14 of 14

Tests names and labsConditionsGenes, analytes, and microbesMethods

DDHD1 Gene SPG28 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

BCAT2 Gene Branched-chain aminotransferase 2 deficiency NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

BCAT2 - NGS including CNV analysis

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

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
971680
  • D Deletion/duplication analysis

Invitae Metabolic Newborn Screening Confirmation Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
222160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated Leucine (MSUD) Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
46
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

Hypervalinemia or hyperleucine-isoleucinemia: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Branched chain aminotransaminase 2 deficiency (BCAT2)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • C Sequence analysis of the entire coding region

BCAT2 Single Gene

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

Nuclear encoded Mitochondriopathies Panel

CeGaT GmbH
Germany
37284
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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.