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Results: 1 to 19 of 19

Tests names and labsConditionsGenes, analytes, and microbesMethods

Renal Stone/Electrolyte Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
8271
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CYP2R1 - NGS including CNV analysis

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

Abnormal Mineralization Panel

Centogene AG - the Rare Disease Company
Germany
9595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Skeletal Disorders Panel

Invitae
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

Rickets due to defect in vitamin D 25-hydroxylation, 600081, Autosomal recessive (Hypocalcemic vitamin D-dependent rickets) (CYP2R1 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

Invitae Hypophosphatemia Panel

Invitae
United States
2317
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Panel

PreventionGenetics, part of Exact Sciences
United States
2011
  • 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

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Invitae
United States
12065
  • D Deletion/duplication analysis

CYP2R1

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Hypophosphatemic rickets panel. NGS panel of 13 genes.

Genologica Medica
Spain
2513
  • C Sequence analysis of the entire coding region

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

Vitamin D-dependent rickets, type 1B

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • C Sequence analysis of the entire coding region

Hypophosphatasia and Hypophosphatemic Rickets Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
1110
  • C Sequence analysis of the entire coding region

Abnormal Mineralization NGS Panel

Fulgent Genetics
United States
7730
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CYP2R1 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.