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Results: 1 to 20 of 23

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • 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

Invitae Oculocutaneous Albinism Panel

Invitae
United States
2822
  • D Deletion/duplication analysis

Invitae Hypopigmentation Panel

Invitae
United States
8346
  • D Deletion/duplication analysis

Invitae Congenital Stationary Night Blindness Panel

Invitae
United States
3622
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nystagmus, infantile periodic alternating, X-linked, 310700, X-linked (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Nystagmus, infantile periodic alternating, X-linked, 310700, X-linked (FRMD7 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

Nystagmus 1, congenital, X-linked, 310700, X-linked; NYS1 (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Nystagmus 1, congenital, X-linked, 310700, X-linked; NYS1 (FRMD7 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 Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FRMD7-Associated X-linked Congenital Nystagmus 1 (NYS1) via the FRMD7 Gene

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

Neuro-ophthalmology panel. NGS panel of 38 genes.

Genologica Medica
Spain
7538
  • C Sequence analysis of the entire coding region

FRMD7

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Nystagmus, congenital: Full gene sequencing panel

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

Neuro-Ophthalmic Disorders NGS Panel

Fulgent Genetics
United States
5226
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-Linked Infantile Nystagmus (FRMD7 Single Gene Test)

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

FRMD7 single gene sequencing

Molecular Vision Laboratory
United States
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-linked congenital nystagmus

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

Results: 1 to 20 of 23

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.