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Results: 1 to 20 of 38 (representing 23 labs)

Tests names and labsConditionsGenes and analytesMethods

Rickets, hypophosphatemic, X-linked dominant - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rickets, hypophosphatemic, X-linked dominant (XLH) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Rickets, hypophosphatemic, X-linked dominant (XLH) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Skeletal Disorders and Joint Problems Sequencing Panel

PreventionGenetics
United States
327258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel

PreventionGenetics
United States
107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

PreventionGenetics
United States
3325
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ExomePLUS Electrolyte & Kidney Stone

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
4649
  • C Sequence analysis of the entire coding region

Hypophosphatemia, X-Linked, via the PHEX Gene

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

PHEX

Department of Clinical Genetics Odense University Hospital
Denmark
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

PHEX. Complete sequencing

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

Hereditary kidney disorders - different panels

Institute of Human Genetics Cologne University
Germany
28411
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS): NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
55
  • C Sequence analysis of the entire coding region

FAMILIAL HYPOPHOSPHATEMIC RICKETS: NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
55
  • C Sequence analysis of the entire coding region

HYPOPHOSPHATEMIC RICKETS X LINKED

Laboratorio de Genetica Clinica SL
Spain
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HYPOPHOSPHATEMIA (FAMILIAL HYPOPHOSPHATEMIC RICKETS)

Laboratorio de Genetica Clinica SL
Spain
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-Linked Hypophosphatemia , Deletions-Duplications (MLPA) PHEX Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

X-Linked Hypophosphatemia , Sequencing PHEX Gene

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

Bone Disorder/O.I. Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
11162
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PHEX Gene Sequencing (Males)

GeneDx
United States
11
  • C Sequence analysis of the entire coding region

Skeletal dysplasia with abnormal mineralization Panel

CeGaT GmbH
Germany
1416
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 38

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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