Genetic Renal Panel
| Label Mnemonic: | Genetic Renal Panel - MORL |
| Epic code: | LAB8233 |
| Downtime form: | Doctor/Provider Orders - Pathology Core and Specialty Care Nursery |
Commercial Mailout Laboratory
6240-8 RCP
356-8593
6240-8 RCP
356-8593
Specimen(s):
Whole Blood, Saliva, or Buccal Swabs
Specimen
Instructions:
Must include the following information:
- Patient identifiers (full name, date of birth, sex and medical record number)
- Pertinent history and clinical findings
- Date of collection & sample type
- Ordering physician
Samples may be refrigerated if delivery is delayed.
Collection Medium:
 | and | |
| Pink top tube 6 mL (K2-EDTA) | Pink top tube 6 mL (K2-EDTA) |
Minimum:
Blood: 3-5cc EDTA Whole Blood- room temp
Saliva: DNA Genotek, ORAGene Discover, OGR-500 (at least 2 kits)
Buccal Swabs: DNA Genotek, OraCollect, OCD-100 (at least 4 swabs)
Saliva: DNA Genotek, ORAGene Discover, OGR-500 (at least 2 kits)
Buccal Swabs: DNA Genotek, OraCollect, OCD-100 (at least 4 swabs)
Delivery Instructions:
Samples accepted Monday-Friday.
Turn Around
Time:
3 weeks
Reference Range:
None detected
Interpretive Data:
Genes Included On Genetic Renal Panel
CFH (Complement Factor H)
CFI (Complement Factor I)
MCP (Membrane Co-Factor Protein or CD46)
CFB (Complement Factor B)
CFHR5 (Complement Factor H Related 5)
THBD (Thrombomodulin)
C3 (Complement Component 3)
ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13)
MMACHC (Methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria)
G6PD (Glucose-6-phosphate dehydrogenase (G6PD) deficiency)
WT1 (Wilms’ Tumor 1)
PLG (Plasminogen)
DGKE (diacylglycerol kinase, epsilon)
C5 (Complement C5) (Two single nucleotide variants that could compromise responsiveness to Eculizumab, C5: c.2653C>T, p.Arg885Cys and c.2654G>A, p.Arg885His
MLPA - Multiple Ligation Probe Amplification (MLPA) is included in the testing to detect non-allelic homologous recombination events within the CFH – CFHR5 genomic region.
CFH (Complement Factor H)
CFI (Complement Factor I)
MCP (Membrane Co-Factor Protein or CD46)
CFB (Complement Factor B)
CFHR5 (Complement Factor H Related 5)
THBD (Thrombomodulin)
C3 (Complement Component 3)
ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13)
MMACHC (Methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria)
G6PD (Glucose-6-phosphate dehydrogenase (G6PD) deficiency)
WT1 (Wilms’ Tumor 1)
PLG (Plasminogen)
DGKE (diacylglycerol kinase, epsilon)
C5 (Complement C5) (Two single nucleotide variants that could compromise responsiveness to Eculizumab, C5: c.2653C>T, p.Arg885Cys and c.2654G>A, p.Arg885His
MLPA - Multiple Ligation Probe Amplification (MLPA) is included in the testing to detect non-allelic homologous recombination events within the CFH – CFHR5 genomic region.
Comments:
Please print, complete and submit the Kidney Testing Requisition Form from the Molecular
Otolaryngology & Renal Research Laboratories, to Specimen
Control/Mailouts with the specimen and the Epic Requisition.
Reasons for Testing: Establishing a diagnosis allows healthcare providers to provide to their patients' prognostic information and meaningful genetic counseling where applicable.
Indications for screening: Genetic Renal Panel testing is recommended for patients with hereditary thrombotic microangiopathies (TMAs), Complement-mediated TMA or atypical Hemolytic Uremic Syndrome (aHUS); Thrombotic Thrombocytopenic Purpura (TTP); C3 Glomerulopathy (C3G); C3 Glomerulonephritis (C3GN); and Dense Deposit Disease (DDD). This testing is also appropriate for patients suspected of having Methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria, Glucose-6-phosphate dehydrogenase (G6PD) deficiency and Denys-Drash syndrome (DDS). 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 such as MLPA.
Outside providers please contact MORL at 335-6623 with questions.
Reasons for Testing: Establishing a diagnosis allows healthcare providers to provide to their patients' prognostic information and meaningful genetic counseling where applicable.
Indications for screening: Genetic Renal Panel testing is recommended for patients with hereditary thrombotic microangiopathies (TMAs), Complement-mediated TMA or atypical Hemolytic Uremic Syndrome (aHUS); Thrombotic Thrombocytopenic Purpura (TTP); C3 Glomerulopathy (C3G); C3 Glomerulonephritis (C3GN); and Dense Deposit Disease (DDD). This testing is also appropriate for patients suspected of having Methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria, Glucose-6-phosphate dehydrogenase (G6PD) deficiency and Denys-Drash syndrome (DDS). 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 such as MLPA.
Outside providers please contact MORL at 335-6623 with questions.
Methodology:
The Genetic Renal Panel uses the newest DNA sequencing methods with a diagnostic sensitivity and specificity that is greater than 99%.
CPT Code:
81479, 81405