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Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

PIEZO2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Neonatal Respiratory Distress Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
163111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arthrogryposis, distal, with impaired proprioception and touch, 617146, Autosomal recessive (Marden-Walker syndrome) (PIEZO2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Arthrogryposis, distal, with impaired proprioception and touch, 617146, Autosomal recessive (Marden-Walker syndrome) (PIEZO2 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

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Arthrogryposis panel. NGS panel of 69 genes.

Genologica Medica
Spain
13569
  • C Sequence analysis of the entire coding region

ARTHROGRYPOSIS DISTAL, TYPE 5 (WITH OPHTALMOPLEGIA)

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

Congenital Contractures NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8157
  • C Sequence analysis of the entire coding region

Results: 1 to 11 of 11

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