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Macular Dystrophy, Autosomal Dominant

Tests Available

• RDS (PRPH2) Gene Sequencing
• BEST1 Gene Sequencing

RDS (PRPH2) Gene Sequencing

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

RDS (PRPH2)

Clinical Utility:

• Confirmation of a clinical diagnosis
• To differentiate adRP from other forms of retinal dystrophy
• Recurrence risk assessment
• Prenatal diagnosis

Lab Method:

Capillary Sequencing

ORDERING

Test Code:

299

Turnaround Time:

4-5 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:

81479x1

List Price:

$650.00

Billing Information:

View Billing Policy

ICD Codes:

• 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa

REFERENCES

1. Browne SJ (2006) Invest Ophthalmol Vis Sci. Jan;47(1):34-42
2. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Oct;47(10):4579-88
3. Naushin W(2007) Invest Ophthalmol Vis Sci, Mar;48(3):1330-4
4. Dryja TP (1991) Proc. Natl. Acad. Sci. USA Vol. 88, pp. 9370-9374
5. Riazuddin SA (2005) Invest Ophthalmol Vis Sci. Jul;46(7):2264-70
6. Davidson et al., (2009) Am J Hum Genet 85:581-592
7. Kajiwara K (1993) Nat Genet.Mar;3(3):208-12
8. Gamundi MJ (2007). Mol Vis. Jun 28;13:1031-7
9. Kennan A (2005) Trends Genet Feb;21(2):103-10
10. Retnet http://www.sph.uth. tmc.edu/RetNet/
11. Sullivan LS (2006) Invest Ophthalmol Vis Sci. Jul;47(7):3052-64
12. Bunker CH (1984) Am J Ophthalmol; 97: 357–6522
13. Ziviello C (2005). J Med Genet. Jul;42(7):e47
14. Haim M (2002) Acta Ophthalmol Scand Suppl 80:1-34

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