Complete List of MLPA Genes

CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5

MORL Screening Methodology

Multiplex Ligation-Dependent Probe Amplification (MLPA) is used to detect non-allelic homologous recombination events within the CFH – CFHR5. This assay is based on sequence-specific hybridization and the subsequent ligation of two directly flanking half-probes on a target nucleic acid sequence. Only when these half-probes are ligated can the resultant fragment serve as a template for PCR amplification. Multiple probes are used to cross-check validity.

(SEND ONLY ONE OF THE FOLLOWING SAMPLE TYPES) : 

  • 5µg DNA suspended in ≥ 50µl elution buffer
    • minimum concentration 50ng/µl
    • A260/A280 1.8-2.0
  • 3-5 cc EDTA Whole Blood
    • room temperature
  • Saliva
    • DNA Genotek, ORAGene Discover, OGR-500
  • Buccal Swabs 
    • at least 4 swabs

    • DNA Genotek, OraCollect, OCD-100

       

Click here to print sample and shipping requirements.

  • Whole Blood Sample Stability for DNA extraction
    • EDTA Whole Blood is stable for 7 days at room temperature and 4 months in the refrigerator
  • Saliva Collection Kits and Buccal Swabs Sample Stability
    • Per the manufacturer for samples collected following the instructions provided with kit/swabs: OGR-500 saliva collection kits are stable at room temperature for several years and OCD-100 buccal swabs stable up to 80 days.  Both of these kits can be shipped at room temperature.

  • Labeled with the sample type AND patient’s name, DOB, MRN and sex
  • Room temperature (DO NOT FREEZE)
  • Samples may be refrigerated if delivery is delayed
  • Shipping and receiving dock closed on weekends and holidays 
    • Deliveries accepted Monday - Friday 

Click here to print sample and shipping requirements.

Information

Quick Facts

  • CPT code: 81405
  • Test code: MLPA02
  • Turnaround time: 3 weeks
  • Cost: $686
Requisition Form

To order:

Use this requisition form to order this test.

Background Knowledge

Genetic analyses for C3 glomerulopathy (C3G) and atypical hemolytic uremic syndrome (aHUS) must include suitable technologies to detect copy number variation, hybrid genes and other complex genomic rearrangements in the CFH-CFHR5 genomic region (Goodship, TH et al., 2017).  We interrogate this region using Multiplex Ligation-Dependent Probe Amplification.

The standard deviation rates for each probe are 4%-10% (Schouten, J et al., 2002). MLPA has 95% confidence intervals for positive and negative predictive accuracies of 0.951-0.996 and 0.9996-1 respectively (Ahn JW et al., 2007). With the use of multiple probes, the likelihood of a spurious result is remote.

Genetic testing for renal disease answers many important questions pertaining to patient care. The Genetic Renal Panel provides information on recurrence chance, prognosis, and best methods of treatment.

Goodship TH, Cook HT, Fakhouri F, Fervenza FC, Frémeaux-Bacchi V, Kavanagh D, Nester CM, Noris M, Pickering MC, Rodríguez de Córdoba S, Roumenina LT, Sethi S, Smith RJ; Conference Participants. Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int. 2016 Dec 15. pii: S0085-2538(16)30604-4. doi: 10.1016/j.kint.2016.10.005. [Epub ahead of print], 91(3):539-551, 2017.PubMed PMID: 27989322

The Clinical Diagnostics Service of the Molecular Otolaryngology and Renal Research Laboratories is a Joint Commission-approved CLIA-accredited diagnostic laboratory.