FRMD7
Synonym(s): FLJ43346, NYS, NYS1
Locus: Xq26.2
Protein: FERM domain-containing protein 7
Disorders
Tests
| Sanger sequencing of the FRMD7 gene method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain |
| FRMD7 Del/Dup (Females) method(s): ◦ Del/Dup (CNV) GeneDx - Gaithersburg, MD, USA |
| FRMD7 Gene Sequencing method(s): ◦ Sequencing, Capillary (Sanger) GeneDx - Gaithersburg, MD, USA |
| X-Linked Congenital Nystagmus , Sequencing FRMD7 Gene method(s): ◦ Sequencing, Capillary (Sanger) Reference Laboratory Genetics - Hospitalet de Llobregat, Spain |
| Nystagmus 1, congenital idiopathic (sequence analysis of FRMD7 gene) method(s): ◦ Sequencing, Capillary (Sanger) CGC Genetics - Porto, Portugal |
| Ocular / Oculocutaneous Albinism method(s): ◦ Sequencing, Next Gen MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
| FRMD7-Related Infantile Nystagmus Test method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) MGZ München, Medizinisch Genetisches Zentrum München - München, Germany |
| FRMD7 method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Fulgent Diagnostics - Temple City, CA, USA |
TAT: 3-4 weeks FRMD7-Associated X-linked Congenital Nystagmus 1 (NYS1) via the FRMD7 Geneprice: $690.00 method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
TAT: 2-3 weeks FRMD7-Associated X-linked Congenital Nystagmus 1 (NYS1) via the FRMD7 Geneprice: $940.00 method(s): ◦ Sequencing, Capillary (Sanger) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA |
| Nystagmus type 1 method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) Centogene AG, Rare Disease Company - Rostock, Germany |
| Neuro-Ophthalmology Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
| Retinal Dystrophy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, Helsinki - Helsinki, Finland |
| Neuro-Ophthalmology Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
| Retinal Dystrophy Panel method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA |
