Comprehensive Vision Loss Panel


The Comprehensive Vision Loss Panel includes 249 genes with four subpanels: Retinal Disease (153 genes), Albinism, Hermansky-Pudlak Syndrome, and Waardenburg Syndrome (20 genes), Developmental Eye (21 genes), and Stickler & Cataract (41 genes).

Vision loss can result from both genetic and non-genetic etiologies. In general, up to 60% of congenital blindness among infants has a genetic basis. Next-generation sequencing (NGS) technology is ideal for diagnostic testing of these disorders due to the extreme locus heterogeneity and phenotypic overlap of the genes involved. Furthermore, targeted NGS testing offers greater depth of coverage than other techniques, including exome sequencing. Our customizable targeted NGS panel uses Agilent SureSelect™ XT target enrichment and Illumina HiSeq sequencing to detect pathogenic variants in genes involved in vision loss. These genes were selected for inclusion based on literature review and clinical actionability scores.

Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518.


Specimen Requirements

Prenatal

  • Chorionic villi: 4 mg in conical tube with sterile saline or transport media
  • Amniotic fluid: 15 mL in conical tube
  • Cultured cells: Two confluent T-25 flasks

  • Additionally, please send:
  • Maternal blood: 5-10 mL in EDTA tube (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
  • Paternal blood: 5-10 mL in EDTA tube (lavender top) in case paternal confirmation studies are necessary

Postnatal

  • For adults
  • Blood: Two 5-10 mL tubes with EDTA (lavender top) or two 5-10 mL tubes with ACD (yellow top) from patient
  • Additionally, please send 10-15 mL in EDTA tube (lavender top) or 10-15 mL in ACD tube (yellow top) from both parents
  • Extracted DNA: Minimum 10 μL DNA (50-250 ng/μL); 20 μL DNA (50-250 ng/μL) is preferred

  • For newborns or children
  • Blood: 2 mL in pediatric EDTA tube (lavender top) or 2 mL in pediatric ACD tube (yellow top) from patient
  • Additionally, please send 10-15 mL in EDTA tube (lavender top) or 10-15 mL in ACD tube (yellow top) from both parents

Ordering Information

Shipping

  • Ship at room temperature

Turnaround Time

  • Prenatal: 5-7 days
  • Postnatal: 7-10 days


Resources

Prenatal Test Requisition with Natera NIPT
Prenatal Test Requisition with Sequenom NIPT
General Test Requisition