Classic view of this page
MLPA (CFH-CFHR5) a la carte
Clinical Genetic Test
Help
offered by
Molecular Otolaryngology and Renal Research Laboratories
View lab's test page
LinkOut
GTR Test Accession: Help GTR000613134.1
INHERITED DISEASEHEMATOLOGYIMMUNOLOGY ... View more
Last updated in GTR: 2024-01-11
View version history
Last annual review date for the lab: 2024-01-11 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Recurrence; ...
Conditions (7): Help
AHUS, SUSCEPTIBILITY TO, 7; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; C3 glomerulonephritis more...
Genes (6): Help
CFH (1q31.3); CFHR1 (1q31.3); CFHR2 (1q31.3); CFHR3 (1q31.3); CFHR4 (1q31.3) more...
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
Screening is offered to persons with C3G and aHUS.
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Otolaryngology and Renal Research Laboratories
View lab's website
View lab's test page
Test short name: Help
MLPA
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: Help
MLPA02
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Amy Weaver, Administrator
amy-weaver@uiowa.edu
319-335-6623
Jori Hendon, BA, Administrator
jori-hendon@uiowa.edu
319-335-6653
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
3-5 cc of whole blood in lavender top EDTA tubes or 5 μg DNA from whole blood (resuspended in at least 50 ul of DNA Elution Buffer), samples can be received Monday - Friday (no weekend or holiday deliveries), completed testing requisition form MUST accompany all samples - Institutional Billing …
View more
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: MLPA02
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
This is a la carte testing for copy number variant analysis in the CFH-CFHR5 region. Healthcare providers ordering Genetic Renal Panel also receive this testing as part of that panel.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Conditions Help
Total conditions: 7
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 6
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
MRC Holland custom probe mix
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Recurrence; Risk Assessment
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Screening is offered to persons with C3G and aHUS.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variant interpretation is complex and relies on all available clinical, phenotypic and genetic information. There is no single method, tool, or filter that reliably determines pathogenicity and so expert analysis is required. Variants are discussed at the MORL multidisciplinary meeting to integrate clinical information with genetic results. The MORL Team … View more

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. Ordering healthcare providers are invited to contact the MORL at any time to receive an updated test report with the lab's current variant classifications.
Research:
Is research allowed on the sample after clinical testing is complete? Help
Review for research participation may be requested for review and will require patient demographic, clinical history, biopsy, and any functional and biomarker testing previously performed. Requests are evaluated in the scope of research currently being performed in the MORL.
Recommended fields not provided:
Clinical validity, Will the lab re-contact the ordering physician if variant interpretation changes?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
MLPA
Test Platform:
Applied Biosystems 3500XL
Test Confirmation: Help
Positive results are confirmed on a secondary extraction with repeat testing.
Test Comments: Help
This test may be ordered a la carte and is included in our Genetic Renal Panel v8 testing option.
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed both in-house and at an outside lab
Wet lab work performed in-house

Test performance comments
DNA isolation may be performed by the healthcare provider's institution or any applicable send out laboratories.
Analytical Validity: Help
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.
View citations (1)
  • Ahn JW et al., 2007
Assay limitations: Help
Assay is designed so that each probe pair determines the copy number of a single base across several parts of the genetic region. A deletion is determined by the copy number indicated over several probes. A small copy number event that occurs between probes would not be detected by this … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

Description of PT method: Help
The MORL performs internal proficiency testing biannually.

Description of internal test validation method: Help
The MORL performs internal proficiency testing biannually.
VUS:
Software used to interpret novel variations Help
A custom calculation methodology is used to determine copy number variation along with known genomic region homology to determine copy number in patients and/or hybrid genes present.

Laboratory's policy on reporting novel variations Help
A routine report is provided to the ordering healthcare provider if a novel variation is identified in a gene included on our testing panels.
Recommended fields not provided:
Citations to support assay limitations, Citations to support internal test validation method, PT Provider, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.