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Results: 1 to 20 of 48 (representing 22 labs)

Tests names and labsConditionsGenes and analytesMethods

Achondrogenesis, type II / Hypochondrogenesis - Sanger / Del Dup Comprehensive

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

Achondrogenesis, type II (ACG2) / Hypochondrogenesis - Deletion/Duplication

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

Achondrogenesis, type II (ACG2) / Hypochondrogenesis - Sanger Sequencing

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

COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
118
  • C Sequence analysis of the entire coding region

COL2A1. Complete sequencing

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

COL2A1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
101
  • T Targeted variant analysis

COL2A1 Sequence Analysis

Baylor Genetics
United States
101
  • C Sequence analysis of the entire coding region

COL2A1 Deletion/Duplication Analysis

Baylor Genetics
United States
101
  • D Deletion/duplication analysis

COL2A1 Deletion/Duplication Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
101
  • D Deletion/duplication analysis

COL2A1 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
101
  • T Targeted variant analysis

Skeletal Dysplasia Panel

Insight Medical Genetics
United States
278
  • X Mutation scanning of select exons

Stickler Syndrome Sequencing Panel

PreventionGenetics
United States
279
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple Epiphyseal Dysplasia Sequencing Panel

PreventionGenetics
United States
247
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

Achondrogenesis Type II (ACG2)-Hypochondrogenesis via the COL2A1 Gene

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

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
135136
  • C Sequence analysis of the entire coding region

Achondrogenesis, type II

Genera
Brazil
41
  • C Sequence analysis of the entire coding region

Potentially lethal skeletal disorders Panel

CeGaT GmbH
Germany
4544
  • C Sequence analysis of the entire coding region

COL2A1 related disorders

bio.logis Center for Human Genetics
Germany
141
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Achondrogenesis type 2

Bioarray
Spain
11
  • D Deletion/duplication analysis

Results: 1 to 20 of 48

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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