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Retinitis Pigmentosa/Leber Congenital Amaurosis Deletion/Duplication, 53 Genes
2007095
Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from  ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.

Mnemonic
RP DD
Methodology
Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
3-4 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA) or yellow (ACD Solution A or B). Peripheral blood required. 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
Submit the Patient History Form for Retinitis Pigmentosa/Leber Congenital Amaurosis with the Electronic Packing List. 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Refer to report.

Patient History forms are available online at www.aruplab.com.

Refer to Statement C under Testing Information at http://www.aruplab.com.

Components
Component Test Code*Component Chart NameLOINC
2007096Retinitis Pigmentosa Del/Dup Specimen
2007097Retinitis Pigmentosa Del/Dup Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • ABCA4, AIPL1 ,BEST1, C2ORF71, CA4, CDHR1, CEP290, CERKL, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FSCN2
  • cone-rod dystrophy
  • GUCA1B, GUCY2D, IDH3B, IMPDH1, KLHL7, LCA5, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PRCD, PROM1
  • Leber congenital amaurosis (LCA)
  • PRPF3, PRPF31, PRPF8, RD3, RDH12, RDS, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1
  • Retinitis pigmentosa
  • SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A
  • Stargardt disease