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Results: 1 to 20 of 68

Tests names and labsConditionsGenes, analytes, and microbesMethods

Aortic diseases Panel

Health in Code
Spain
7135
  • C Sequence analysis of the entire coding region

Solid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
218135
  • C Sequence analysis of the entire coding region

MED12 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Invitae
United States
19592
  • D Deletion/duplication analysis

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Invitae Brain Malformations Panel

Invitae
United States
247161
  • D Deletion/duplication analysis

Epilepsy exome

Genetic Services Laboratory University of Chicago
United States
47125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Polydactyly and Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Opitz-Kaveggia syndrome, 305450, X-linked recessive; OKS (FG syndrome type 1) (MED12 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Opitz-Kaveggia syndrome, 305450, X-linked recessive; OKS (FG syndrome type 1) (MED12 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

Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
220128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Top 99 Genetic Causes of Developmental Delay Panel

PreventionGenetics, part of Exact Sciences
United States
17099
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Invitae
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
15088
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypospadias Panel

PreventionGenetics, part of Exact Sciences
United States
15673
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TAADNext®

Ambry Genetics
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FBN1 gene sequence and deletion/duplication reflex to TAADNext®

Ambry Genetics
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Cardio®

Ambry Genetics
United States
236167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Opitz G/BBB Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
4342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 68

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.