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Test Code
5223
Test Name
Nephrotic Syndrome And Related Disorders NGS Panel
CPT Codes
81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Description

Nephrotic syndrome is a genetically heterogeneous renal disorder characterized by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. The disorder is caused by increased permeability of the glomerular membrane. Approximately 20% of individuals with nephrotic syndrome are resistant to steroid treatment and progress rapidly to end stage renal failure. Focal segmental glomerulosclerosis (FSGS) is one of the common histological findings in patients with nephrotic syndrome. FSGS is also a finding in other renal disorders characterized by proteinuria and progressive decline in renal function. This panel includes genes causing nephrotic syndrome, focal segmental glomerulosclerosis, and other disorders with similar renal findings.

The Nephrotic syndrome and related disorders NGS panel consists of forty-two genes: ACTN4, ANLN, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, FN1, INF2, ITGA3, ITGB4, KANK2, LAMB2, LMX1B, MAGI2, MEFV, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SGPL1, SMARCAL1, TRPC6, TTC21B, WDR73 and WT1.

Gene

Disorder

MIM

Inheritance

ACTN4

Focal segmental glomerulosclerosis 1 (FSGS1)

603278

AD

ANLN

Focal segmental glomerulosclerosis 8 (FSGS8)

616032

AD

ARHGAP24

Focal segmental glomerulosclerosis, ARHGAP24 related

-

AD

ARHGDIA

Nephrotic syndrome, type 8 (NPHS8)

615244

AR

CD2AP

Focal segmental glomerulosclerosis 3 (FSGS3)

607832

AD / AR

COL4A3

Alport syndrome, autosomal dominant

Alport syndrome, autosomal recessive

Hematuria, benign familial

104200

203780

141200

AD

AR

AD

COL4A4

Alport syndrome, autosomal recessive

203780

AR

COL4A5

Alport syndrome, X-linked (ATS)

301050

XLD

COL4A6

Deafness, X-linked 6 (dfnx6)

300914

XLR

COL4A5 &

COL4A6

Leiomyomatosis, diffuse, with Alport syndrome

308940

XLD

COQ2

Coenzyme Q10 deficiency, primary, 1 (COQ10D1)

607426

AR

COQ6

Coenzyme Q10 deficiency, primary, 6 (COQ10D6)

614650

AR

COQ8B

Nephrotic syndrome, type 9 (NPHS9)

615573

AR

CRB2

Focal segmental glomerulosclerosis 9 (FSGS9)

616220

AR

CUBN

Nephrotic Syndrome, CUBN related

-

AR

DGKE

Nephrotic syndrome, type 7 (NPHS7)

615008

AR

EMP2

Nephrotic syndrome, type 10 (NPHS10)

615861

AR

FN1

Glomerulopathy with fibronectin deposits 2 (GFND2)

601894

AD

INF2

Focal segmental glomerulosclerosis 5 (FSGS5)

613237

AD

ITGA3

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB)

614748

AR

ITGB4

Nephrotic syndrome, ITGB4 related

-

AR

KANK2

Nephrotic syndrome 16 (NPHS16)

617783

AR

LAMB2

Nephrotic syndrome, type 5 (NPHS5)

614199

AR

LMX1B

Focal segmental glomerulosclerosis, LMX1B related

-

AD

MAGI2

Nephrotic syndrome 15 (NPHS15)

617609

AR

MEFV

Familial Mediterranean fever, autosomal dominant

Familial Mediterranean fever (FMF)

134610

249100

AD

AR

MYO1E

Focal segmental glomerulosclerosis 6 (FSGS6)

614131

AR

NPHS1

Nephrotic syndrome, type 1 (NPHS1)

256300

AR

NPHS2

Nephrotic syndrome, type 2 (NPHS2)

600995

AR

NUP107

Nephrotic syndrome, type 11 (NPHS11)

616730

AR

NUP205

Nephrotic syndrome, type 13 (NPHS13)

616893

AR

NUP93

Nephrotic syndrome, type 12 (NPHS12)

616892

AR

PAX2

Focal segmental glomerulosclerosis 7 (FSGS7)

616002

AD

PDSS2

Coenzyme Q10 deficiency, primary, 3 (COQ10D3)

614652

AR

PLCE1

Nephrotic syndrome, type 3 (NPHS3)

610725

AR

PTPRO

Nephrotic syndrome, type 6 (NPHS6)

614196

AR

SCARB2

Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4)

254900

AR

SGPL1

Nephrotic syndrome 14 (NPHS14)

617575

AR

SMARCAL1

Nephrotic syndrome, SMARCAL1 related

-

AR

TRPC6

Focal segmental glomerulosclerosis 2 (FSGS2)

603965

AD

TTC21B

Nephrotic proteinuria with focal segmental glomerulosclerosis

and tubulointerstitial lesions

-

AR

WDR73

Galloway-Mowat syndrome (GAMOS)

251300

AR

WT1

Nephrotic syndrome, type 4 (NPHS4)

256370

AD
Testing Schedule
Monday-Friday
Genes
ACTN4, ANLN, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, FN1, INF2, ITGA3, ITGB4, KANK2, LAMB2, LMX1B, MAGI2, MEFV, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SGPL1, SMARCAL1, TRPC6, TTC21B, WDR73, WT1
Disease Group
Nephrology
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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