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Results: 21 to 40 of 181

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Hypoparathyroidism Panel

Invitae
United States
4118
  • D Deletion/duplication analysis

Invitae Hypogonadotropic Hypogonadism Panel

Invitae
United States
6746
  • D Deletion/duplication analysis

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Invitae Facial Dysostosis and Frontonasal Dysplasia Panel

Invitae
United States
4428
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
282218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

VACTERL Association and Related Disorders Panel

PreventionGenetics
United States
12384
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Disorders of Sex Development Panel

Invitae
United States
8853
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Diaphragmatic Hernia Panel

PreventionGenetics
United States
11664
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microphthalmia/Anophthalmia/Coloboma Panel

PreventionGenetics
United States
7355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Non-Immune Hydrops Fetalis Panel

PreventionGenetics
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nonsyndromic Congenital Heart Disease Panel

PreventionGenetics
United States
5444
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Congenital Heart Disease Panel

PreventionGenetics
United States
241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CHARGE syndrome, 214800, Autosomal dominant (CHARGE syndrome) (SEMA3E gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

CHARGE syndrome, 214800, Autosomal dominant (CHARGE syndrome) (CHD7 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

CHARGE syndrome, 214800, Autosomal dominant (CHARGE syndrome) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

CHARGE syndrome, 214800, Autosomal dominant (CHARGE syndrome) (SEMA3E gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

CHARGE syndrome, 214800, Autosomal dominant (CHARGE syndrome) (Prenatal) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Results: 21 to 40 of 181

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.