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

Recommended test for confirming a diagnosis of inherited retinal disease, including retinitis pigmentosa, Leber congenital amaurosis, Stargardt disease, and cone-rod dystrophy.

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.

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.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

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
  • choroideremia
  • cone-rod dystrophy
  • Leber congenital amaurosis (LCA)
  • night blindness
  • retinal dystrophy
  • Retinitis pigmentosa
  • Stargardt disease
  • Usher syndrome choroideremia