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Results: 21 to 40 of 138

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
228
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Organic Aciduria Panel

PreventionGenetics, part of Exact Sciences
United States
3941
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hyperammonemia Panel

PreventionGenetics, part of Exact Sciences
United States
6663
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

Propionicacidemia, 606054, Autosomal recessive (Propionic acidemia) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Propionicacidemia, 606054, Autosomal recessive (Propionic acidemia) (PCCA gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Propionicacidemia, 606054, Autosomal recessive (Propionic acidemia) (PCCB gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Propionicacidemia, 606054, Autosomal recessive (Propionic acidemia) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Propionicacidemia, 606054, Autosomal recessive (Propionic acidemia) (PCCA gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Propionicacidemia, 606054, Autosomal recessive (Propionic acidemia) (PCCB gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Hyperammonemia Panel

Invitae
United States
7572
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Invitae
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PCCB-Related Propionic Acidemia

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

PCCA-Related Propionic Acidemia

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

PCCB - Propionic acidemia

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

PCCA - Propionic acidemia

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

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel

PreventionGenetics, part of Exact Sciences
United States
3439
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 21 to 40 of 138

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.