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Results: 41 to 56 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

PCNT Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Selected Genetic Syndromes with skeletal involvement Panel

CeGaT GmbH
Germany
3642
  • C Sequence analysis of the entire coding region

Microcephaly

Asper Biogene Asper Biogene LLC
Estonia
11196
  • C Sequence analysis of the entire coding region

Microcephalic osteodysplastic primordial dwarfism, type II

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Microcephaly and Pontocerebellar Hypoplasia Panel

CeGaT GmbH
Germany
3836
  • C Sequence analysis of the entire coding region

Microcephaly and Pontocerebellar Hypoplasia Panel

CeGaT GmbH
Germany
3836
  • C Sequence analysis of the entire coding region

Microcephalic osteodysplastic primordial dwarfism Type 2

Institute of Human Genetics Cologne University
Germany
11
  • C Sequence analysis of the entire coding region

PCNT Single Gene

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

Skeletal Dysplasias NGS Panel

Fulgent Genetics
United States
543178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PCNT Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Clinical Exome

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

Primordial Dwarfism NGS Panel

Fulgent Genetics
United States
1612
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephaly NGS Panel

Fulgent Genetics
United States
32275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephalic Osteodysplastic Primordial Dwarfism, Type II

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

MOPD II

Laboratory of Andrew Jackson Institute of Genetics and Cancer
United Kingdom
11
  • C Sequence analysis of the entire coding region

Results: 41 to 56 of 56

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.