Number of Panel Genes: 
32

Leber congenital amaurosis (LCA), the second most common inherited retinal dystrophy, is primarily characterized by poor visual acuity. Other findings include nystagmus, amaurotic pupil, high hyperopia, keratoconus, progressive pigmentary changes in the retina, and extinguished electroretinogram. Franceschetti's oculo-digital sign is pathognomonic. It is a behavior characterized by hard finger poking, pressing, and rubbing the eyes.read more

Tests Available

32 Panel Genes: AIPL1, ALMS1, CABP4, CEP290, CLUAP1, CNGA3, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, OTX2, PRPH2, RD3, RDH5, RDH12, ROM1, RPE65, RPGRIP1, SNRNP200, SPATA7, TULP1
Next Generation Sequencing
$1,520
Test Code: 5268
Deletion / Duplication
$990
Test Code: 5269
NGS/Del Dup Comprehensive
$1,895
Test Code: 5270

Test Details

Technical Information
Panel Genes: 
AIPL1, ALMS1, CABP4, CEP290, CLUAP1, CNGA3, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, OTX2, PRPH2, RD3, RDH5, RDH12, ROM1, RPE65, RPGRIP1, SNRNP200, SPATA7, TULP1
Disease Groups: 
Eye Disorders
Billing
Price: 
$1,520
CPT Codes: 
81404 x 1
81406 x 2
81407 x 1
81479 x 28
Ordering
SKU:
5268
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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