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Results: 1 to 20 of 44

Tests names and labsConditionsGenes and analytesMethods

Baby Genes Targeted Panel

Baby Genes Inc.
United States
8990
  • T Targeted variant analysis

Carnitine Palmitoyltransferase II Deficiency

Fatty Acid Oxidation Laboratory Medical College of Wisconsin
United States
52
  • A Analyte

j-FamilyReady Ashkenazi + Sephardic-Mizrahi Carrier Screen (95 genes)

EVOLVEGENE EvolveGene
United States
16595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

DonorReady Customized Carrier Screen (Select from 204 Genes)

EVOLVEGENE EvolveGene
United States
325204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

j-FamilyReady Ashkenazi Carrier Screen (56 Genes)

EVOLVEGENE EvolveGene
United States
10256
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FamilyReady Carrier Screen (204 Genes)

EVOLVEGENE EvolveGene
United States
325204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CPT2 Gene, Full Gene Analysis

Mayo Clinic Genetic Testing Laboratories Mayo Clinic
United States
11
  • C Sequence analysis of the entire coding region

Carnitine palmitoyltransferase II deficiency

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

CPT2 Sequence Analysis

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Acylcarnitine Profile, Quantitative and Qualitative, Plasma

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
361
  • A Analyte

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel

Phosphorus Diagnostics LLC
United States
978
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel

Phosphorus Diagnostics LLC
United States
977
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel

Phosphorus Diagnostics LLC
United States
1095
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel

Phosphorus Diagnostics LLC
United States
860
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel

Phosphorus Diagnostics LLC
United States
748
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carnitine palmitoyltransferase II deficiency

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

NGS Rhabdomyolysis and Metabolic Myopathies Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
4647
  • C Sequence analysis of the entire coding region

NGS Rhabdomyolysis and Metabolic Myopathies Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
4647
  • C Sequence analysis of the entire coding region

Fatty Acid Oxidation Deficiency

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
422
  • C Sequence analysis of the entire coding region

Family Prep Screen

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

Results: 1 to 20 of 44

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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