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Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication
2007085
Ordering Recommendation

Preferred molecular test for confirming diagnosis of congenital retinal diseases.

Mnemonic
RP PANEL
Methodology
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
3-6 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
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.

Note
GENES TESTED: ABCA4, AIPL1, BEST1, C8orf37**, CA4, CDHR1, CEP290, CERKL, CHM***, CLRN1**, CNGA1*, CNGB1, CRB1, CRX, DHDDS, EYS, FAM161A**, FSCN2, GUCY2D, IDH3B, IMPDH1, IMPG2**, IQCB1**, KIZ**, KLHL7, LCA5, LRAT, MAK**, MERTK, NMNAT1**, NR2E3, NRL, PCARE, PDE6A, PDE6B, PRCD, PROM1, PRPF3, PRPF31, PRPF8, PRPH2, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH1C**, USH2A
 
* One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
** Deletion/duplication detection is not available for this gene.
*** One or more exons are not covered by sequencing, and deletion/duplication detection is not available for this gene; see Additional Technical Information.
Hotline History
View Hotline History
Components
Component Test Code*Component Chart NameLOINC
2007086Retinitis Pigmentosa Panel Specimen
2007089RP PANEL 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
  • cone-rod dystrophy
  • Leber congenital amaurosis (LCA)
  • Retinitis pigmentosa
  • Stargardt disease
  • Usher syndrome choroideremia