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Results: 1 to 20 of 27 (representing 16 labs)

Tests names and labsConditionsGenes and analytesMethods

Rapid microarray (CGH and SNP)

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

Microphthalmia syndromic type 7

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

Anophthalmia / Microphthalmia Sequencing Panel

PreventionGenetics
United States
1817
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
88
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
2524
  • C Sequence analysis of the entire coding region

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
351275
  • C Sequence analysis of the entire coding region

Neuromuscular Comprehensive Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
454305
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis

Asper Biogene Asper Biogene LLC
Estonia
3432
  • C Sequence analysis of the entire coding region

Anophthalmia/microphthalmia

Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
Denmark
1129
  • C Sequence analysis of the entire coding region

Hypospadias Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
7361
  • C Sequence analysis of the entire coding region

Abnormal/Ambiguous Genitalia Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
8272
  • C Sequence analysis of the entire coding region

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2926
  • C Sequence analysis of the entire coding region

Microphthalmia syndromic 7 (sequence analysis of HCCS gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Microphthalmy Panel

CeGaT GmbH
Germany
1326
  • C Sequence analysis of the entire coding region

qChip

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

HCCS

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

devSEEK® Sequence Analysis for Neurodevelopmental Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
261201
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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.

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