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Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

ERCC6 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Premature ovarian failure 11, 616946, Autosomal dominant; POF11 (ERCC6 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 Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel

Invitae
United States
13081
  • D Deletion/duplication analysis

Cataract panel. NGS panel of 69 genes.

Genologica Medica
Spain
14669
  • 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

Progeria panel. 17-gene NGS panel.

Genologica Medica
Spain
4817
  • C Sequence analysis of the entire coding region

Premature ovarian failure: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1715
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

Results: 1 to 11 of 11

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