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Results: 1 to 20 of 28 (representing 18 labs)

Tests names and labsConditionsGenes and analytesMethods

Congenital heart defects panel

Centogene AG - the Rare Disease Company
Germany
2612
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

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

Holoprosencephaly panel

Centogene AG - the Rare Disease Company
Germany
19
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Holoprosencephaly Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
210
  • C Sequence analysis of the entire coding region

Holoprosencephaly Panel, Nonsyndromic Sequencing and Deletion/Duplication, 11 Genes

ARUP Laboratories, Molecular Genetics and Genomics
United States
611
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microform Holoprosencephaly (HPE10) via the DISP1 Gene

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

Autosomal Dominant, Non-Syndromic Holoprosencephaly via the GAS1 Gene

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

Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel

PreventionGenetics
United States
1014
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Skeletal / Malformation Syndrome Panel

Blueprint Genetics
Finland
13429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Holoprosencephaly

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
413
  • C Sequence analysis of the entire coding region

Comprehensive Brain Malformation Panel

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
36106
  • C Sequence analysis of the entire coding region

Invitae Congenital Heart Disease Panel

Invitae
United States
6942
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Holoprosencephaly Panel

Invitae
United States
65
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Heart Defects and Heterotaxy Panel

Invitae
United States
12882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

180K CGH+SNP microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
2341
  • D Deletion/duplication analysis
  • H Detection of homozygosity

NGS Epilepsy/Seizure Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
96145
  • C Sequence analysis of the entire coding region

Holoprosencephaly Panel

CeGaT GmbH
Germany
127
  • C Sequence analysis of the entire coding region

Holoprosencephaly Panel

CeGaT GmbH
Germany
127
  • C Sequence analysis of the entire coding region

qChip

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

NODAL

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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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