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Results: 1 to 20 of 38

Tests names and labsConditionsGenes, analytes, and microbesMethods

SNRPE Gene Hypotrichosis type 11 NGS Genetic DNA Test

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

Early Onset IBD Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
163110
  • C Sequence analysis of the entire coding region

DUOX2 Gene Thyroid dyshormonogenesis type 6 NGS Genetic DNA Test

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

CentoICU Panel

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

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Invitae Congenital Diarrhea Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
12183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Thyroid dyshormonogenesis 6, 607200, Autosomal recessive; TDH6 (Familial thyroid dyshormonogenesis) (DUOX2 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

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics, part of Exact Sciences
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
223154
  • D Deletion/duplication analysis

Invitae Monogenic Inflammatory Bowel Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
10867
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
552424
  • D Deletion/duplication analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
327300
  • C Sequence analysis of the entire coding region

Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOX2 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Hypothyroidism and Thyroid Hormone Resistance Panel

PreventionGenetics, part of Exact Sciences
United States
3226
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary Immunodeficiency Panel

Baylor Genetics
United States
1463
  • C Sequence analysis of the entire coding region

Congenital Hypothyroidism Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
1815
  • C Sequence analysis of the entire coding region

Male Infertility Panel

CGC Genetics Unilabs
Portugal
1165
  • C Sequence analysis of the entire coding region

Female Infertility Panel

CGC Genetics Unilabs
Portugal
1129
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 38

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.