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Results: 21 to 40 of 71

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Methylmalonic Acidemia and Homocystinuria Panel

Invitae
United States
2929
  • 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

Invitae Metabolic Newborn Screening Confirmation Panel

Invitae
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated C3 Panel

Invitae
United States
1519
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Organic Acidemias Panel

Invitae
United States
10897
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cobalamin Metabolism Panel (MitomeNGS)

Baylor Genetics
United States
109
  • C Sequence analysis of the entire coding region

MMAB Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

MMAB Sequence Analysis

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

MMAB Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

MMAB Comprehensive - Sequence & Deletion/Duplication Analysis

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

Methylmalonic Acidemia Panel Sequence Analysis

Baylor Genetics
United States
33
  • C Sequence analysis of the entire coding region

Methylmalonic Acidemia Comprehensive Panel (Sequencing and Deletion/Duplication Analysis)

Baylor Genetics
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Methylmalonic Acidemia Deletion/Duplication Panel

Baylor Genetics
United States
33
  • D Deletion/duplication analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Methylmalonic Acid - Plasma

Baylor Genetics
United States
91
  • A Analyte

Methylmalonic Acidemia Panel

PreventionGenetics, part of Exact Sciences
United States
1111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
4160
  • C Sequence analysis of the entire coding region

Hyperammonemia and urea cycle disorders panel. 48-gene NGS panel.

Genologica Medica
Spain
4948
  • C Sequence analysis of the entire coding region

Organic acidemia / Aciduria and cobalamin deficiency panel. NGS panel of 53 genes.

Genologica Medica
Spain
5353
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 71

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.