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Results: 1 to 10 of 10

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Abnormal Mineralization Panel

Centogene AG - the Rare Disease Company
Germany
9595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • D Deletion/duplication analysis

Bone Fragility and Fracture Panel

PreventionGenetics, part of Exact Sciences
United States
8774
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spinal muscular atrophy with congenital bone fractures 2, 616867, Autosomal recessive; SMABF2 (ASCC1 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

Spinal muscular atrophy with congenital bone fractures 2, 616867, Autosomal recessive; SMABF2 (ASCC1 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

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
12065
  • D Deletion/duplication analysis

Spinal muscular atrophy with congenital bone fractures: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

SPINAL MUSCULAR ATROPHY WITH FRACTURES, PRENATAL (SMABF)

Laboratorio de Genetica Clinica SL
Spain
22
  • C Sequence analysis of the entire coding region

Results: 1 to 10 of 10

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