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Results: 1 to 20 of 97

Tests names and labsConditionsGenes, analytes, and microbesMethods

SmartMeds+ Pharmacogenomic Testing By Innovative GX Health

Innovative Genomics InnovativeGx Health
United States
167
  • T Targeted variant analysis

MTRR Gene Homocystinuria-megaloblastic anemia, cbl E type NGS Genetic DNA Test

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

MTRR Gene Spina bifida folate sensitive NGS Genetic DNA Test

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

Tempus xT

Tempus Labs, Inc.
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

HemeZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
10796
  • C Sequence analysis of the entire coding region

MTRR - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Comprehensive Neurometabolic Disorders Panel

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

Methylmalonic Aciduria Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
125
  • 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

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

Homocystinuria-megaloblastic anemia, cbl E type, 236270, Autosomal recessive; HMAE (Methylcobalamin deficiency type cblE) (MTRR 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

Homocystinuria-megaloblastic anemia, cbl E type, 236270, Autosomal recessive; HMAE (Methylcobalamin deficiency type cblE) (MTRR 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

Results: 1 to 20 of 97

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.