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CFH-CFHR5 Assay Report
Test Code11392
CPT Codes
81405<br /> This test is not available for New York patient testing<br /> Restricted Client Code
Preferred Specimen
10 cc. whole blood collected in an EDTA (lavender-top) tube, or
Pediatric volume (under age 4 years old): 4 cc. whole blood collected in an EDTA (lavender-top) tube, or
10 ug DNA, minimum concentration: 50 ng/ìl (A260/A280 1.8-2) resuspended in 0.1mM EDTA (10mM Tris HC1, 0.1mM EDTA, pH 8, Teknova Cat# T0220)
Pediatric volume (under age 4 years old): 4 cc. whole blood collected in an EDTA (lavender-top) tube, or
10 ug DNA, minimum concentration: 50 ng/ìl (A260/A280 1.8-2) resuspended in 0.1mM EDTA (10mM Tris HC1, 0.1mM EDTA, pH 8, Teknova Cat# T0220)
Minimum Volume
8 cc whole blood • 3 cc pediatric blood • 10 ug DNA
Instructions
Please note: blood samples drawn from a bone marrow transplant patient will result in genetic results for the donor rather than the patient.
-Overnight delivery, Room temperature (DO NOT FREEZE WHOLE BLOOD)
-Samples are accepted Monday-Friday.
-Samples may be refrigerated if delivery is delayed (stability 1 week)
ALL requested information must be provided or testing will not be performed
Patient information:
-Patient date of birth and gender
-Patient ethnicity and race
-Patient's clinical information and family history of kidney disease
Specimen information:
-Patient identifiers (full name, date of birth, sex and medical record number)
-Date of collection
-Sample type - frozen samples must be CLEARLY LABELED as either serum or plasma (and type, EDTA or Citrate)
-Ordering physician
-Overnight delivery, Room temperature (DO NOT FREEZE WHOLE BLOOD)
-Samples are accepted Monday-Friday.
-Samples may be refrigerated if delivery is delayed (stability 1 week)
ALL requested information must be provided or testing will not be performed
Patient information:
-Patient date of birth and gender
-Patient ethnicity and race
-Patient's clinical information and family history of kidney disease
Specimen information:
-Patient identifiers (full name, date of birth, sex and medical record number)
-Date of collection
-Sample type - frozen samples must be CLEARLY LABELED as either serum or plasma (and type, EDTA or Citrate)
-Ordering physician
Transport Temperature
Refrigerated (cold packs)
Specimen Stability
Whole blood
Room temperature: 48 hours
Refrigerated: 7 days
Frozen: Unacceptable
DNA
Room temperature: 1 week
Refrigerated: 1 week
Frozen: Indefinitely
Room temperature: 48 hours
Refrigerated: 7 days
Frozen: Unacceptable
DNA
Room temperature: 1 week
Refrigerated: 1 week
Frozen: Indefinitely
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Samples missing required patient and specimen information • Frozen or thawed specimens • Clotted specimens
Methodology
Enzyme-Linked Immunosorbent Assay (ELISA)
FDA Status
This test was developed and its performance characteristics determined by the Clinical Diagnostics Division of the Molecular Otolaryngology & Renal Research Laboratories. It has not been cleared or approved by the US Food and Drug Administration.
Setup Schedule
Set up: Mon-Fri; Report available: 21 days
Reference Range
Negative
Clinical Significance
CFH-CFHR5 Genomic Region
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/CFHRs genomic region (Goodship, TH et al., 2017). We interrogate this region using Multiplex Ligation-Dependent Probe Amplification.
Indications for screening: Screening is offered to persons with C3G and aHUS.
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/CFHRs genomic region (Goodship, TH et al., 2017). We interrogate this region using Multiplex Ligation-Dependent Probe Amplification.
Indications for screening: Screening is offered to persons with C3G and aHUS.
