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Results: 1 to 20 of 30

Tests names and labsConditionsGenes, analytes, and microbesMethods

Homocystinuria

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

Methylenetetrahydrofolate Reductase Deficiency

Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
United States
41
  • S Mutation scanning of the entire coding region
  • E Sequence analysis of select exons

MTHFR

Invitae
United States
41
  • T Targeted variant analysis

PreScript

Prescient Medicine Jefferson
United States
912
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Polypharmacy Comprehensive

Aventus Biolabs
United States
1616
  • T Targeted variant analysis

Invitae Comprehensive Carrier Screen without X-linked Disorders

Invitae
United States
228279
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
247301
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MTHFR gene polymorphisms study

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

MTHFR deficiency

Molecular Haemostasis & Thrombosis Viapath - Guy's and St. Thomas' NHS Foundation Trust
United Kingdom
21
  • C Sequence analysis of the entire coding region

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

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
377317
  • C Sequence analysis of the entire coding region

MTHFR A1298C Mutation Analysis

Duzen Laboratories Duzen BBAGUAS
Turkey
11
  • T Targeted variant analysis

MTHFR C677T Mutation Analysis

Duzen Laboratories Duzen BBAGUAS
Turkey
11
  • T Targeted variant analysis

Horizon 274 Male

Natera, Inc.
United States
244254
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

PGS.pharma

Diagnosticum Center for Human Genetics
Germany
1912
  • T Targeted variant analysis

Female Infertility

Asper Biogene Asper Biogene LLC
Estonia
8564
  • C Sequence analysis of the entire coding region

MTHFR genotyping

Consultative Genomics PLLC.
United States
51
  • T Targeted variant analysis

Horizon 106 plus TSE

Natera, Inc.
United States
103107
  • E Enzyme assay
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 106

Natera, Inc.
United States
103106
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 30

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.