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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

Spondyloocular syndrome, 605822, Autosomal recessive; SOS (Spondylo-ocular syndrome) (XYLT2 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

Spondyloocular syndrome, 605822, Autosomal recessive; SOS (Spondylo-ocular syndrome) (XYLT2 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

FUCA1 Gene Fucosidosis NGS Genetic DNA Test

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

OI and Bone Fragility Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

XYLT2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Invitae Skeletal Disorders Panel

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

Bone Fragility and Fracture Panel

PreventionGenetics, part of Exact Sciences
United States
8774
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

LowBoneDensityZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
11050
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta Panel

PreventionGenetics, part of Exact Sciences
United States
3326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
362227
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Panel

PreventionGenetics, part of Exact Sciences
United States
4637
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Panel

PreventionGenetics, part of Exact Sciences
United States
3727
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
12065
  • D Deletion/duplication analysis

Invitae Congenital Disorders of Glycosylation Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
203152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spondylo-ocular syndrome (sequence analysis of XYLT2 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Elastic pseudoxanthoma. Panel NGS genes: ABCC6, GGCX, XYLT1, XYLT2.

Genologica Medica
Spain
74
  • C Sequence analysis of the entire coding region

Spondyloocular syndrome

Molecular Diagnostics Lab Nemours Children's Health, Delaware
United States
11
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta and Genetic Bone Disorders Panel

Collagen Diagnostic Laboratory University of Washington
United States
2730
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.