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Results: 1 to 20 of 63

Tests names and labsConditionsGenes, analytes, and microbesMethods

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Invitae Expanded Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hypogonadotropic Hypogonadism Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6746
  • D Deletion/duplication analysis

Invitae Disorders of Sex Development Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
8853
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700, X-linked; HH1 (Kallmann syndrome) (ANOS1 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

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Cleft Lip/Cleft Palate Panel

PreventionGenetics, part of Exact Sciences
United States
177161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ambiguous Genitalia Panel

PreventionGenetics, part of Exact Sciences
United States
12885
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypogonadotropic Hypogonadism/Kallmann Panel

PreventionGenetics, part of Exact Sciences
United States
3538
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Differences of Sex Development (DSD) Panel

PreventionGenetics, part of Exact Sciences
United States
149158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Differences of Sex Development (DSD) and Infertility Panel

PreventionGenetics, part of Exact Sciences
United States
223238
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 63

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.