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Results: 1 to 20 of 32 (representing 18 labs)

Tests names and labsConditionsGenes and analytesMethods

Hypophosphatasia, infantile, childhood & adult types - Sanger / Del Dup Comprehensive

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

Hypophosphatasia, infantile, childhood & adult types - Deletion/Duplication

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

Hypophosphatasia, infantile

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

Hypophosphatasia, infantile, childhood & adult types - Sanger Sequencing

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

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

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel

PreventionGenetics
United States
2719
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ALPL. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

ALPL. Sequencing of the exons 6, 9, 10 and 11

Instituto de Medicina Genomica
Spain
31
  • E Sequence analysis of select exons

Low Bone Mass Panel (MitomeNGS)

Baylor Miraca Genetics Laboratories
United States
3922
  • C Sequence analysis of the entire coding region

ALPL Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
41
  • T Targeted variant analysis

ALPL Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
41
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ALPL Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
41
  • D Deletion/duplication analysis

ALPL Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypophosphatasia via the ALPL Gene

PreventionGenetics
United States
31
  • 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

GeneAware Complete Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Comprehensive Dominant Bone Fragility Panel

Collagen Diagnostic Laboratory University of Washington
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasias

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
7936
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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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