U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 1 to 20 of 65

Tests names and labsConditionsGenes, analytes, and microbesMethods

XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
247262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early-Onset High Myopia Panel

PreventionGenetics, part of Exact Sciences
United States
285137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
346160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Supplemental Metabolic Newborn Screening Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
253189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Disorders of Glycosylation Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • D Deletion/duplication analysis

Desbuquois dysplasia and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
311
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Desbuquois dysplasia core Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
24
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Desbuquois dysplasia core NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
24
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Desbuquois dysplasia core Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
24
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Desbuquois dysplasia and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
311
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Desbuquois dysplasia and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
311
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pseudoxanthoma elasticum, modifier of severity of, 264800, Autosomal recessive (Pseudoxanthoma elasticum) (XYLT1 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

Desbuquois dysplasia 2, 615777, Autosomal recessive; DBQD2 (Desbuquois syndrome) (XYLT1 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

Desbuquois dysplasia 2, 615777, Autosomal recessive; DBQD2 (Desbuquois syndrome) (XYLT1 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 65

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.