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Results: 1 to 20 of 76 (representing 36 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Smith-Lemli-Opitz syndrome

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

Smith-Lemli-Opitz Syndrome (SLOS)

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

qGenEx Sex development disorders

Quantitative Genomic Medicine Laboratories, SL
Spain
4548
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Comprehensive Fetal and Neonatal Loss Panel

PreventionGenetics
United States
4041
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fetal Concerns Sequencing Panel

PreventionGenetics
United States
3840
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

KidneySeq: A Comprehensive Inherited Kidney Disease Panel

Iowa Institute of Human Genetics University of Iowa
United States
124147
  • C Sequence analysis of the entire coding region

DHCR7. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

DHCR7 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

DHCR7 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

DHCR7 Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region

Smith-Lemli-Opitz Syndrome via the DHCR7 Gene

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

Smith-Lemli-Opitz Syndrome - DHCR7 Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • C Sequence analysis of the entire coding region

Autism Spectrum Panel Tier 1: Biochemical, Plasma and Urine

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
65
  • A Analyte

Smith-Lemli-Opitz Syndrome, Sequencing DHCR7 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

GeneAware Ashkenazi Jewish Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories
United States
4437
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Ashkenazi Jewish Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories
United States
4739
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware Complete Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 76

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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