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Test Code
5338
Test Name
Polycystic Kidney Disease 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
Alternate Names
  • ADPKD
  • ARPKD
Description

Polycystic kidney disease is a common genetic disorder. It can be autosomal dominant (ADPKD) or autosomal recessive (ARPKD). ADPKD can manifest at any age, but it is usually a late-onset multisystem disorder. It is characterized by bilateral renal cysts leading to enlarged kidneys and kidney failure. Liver cysts, intracranial aneurysms, and mitral valve prolapse are also commonly seen. ARPKD is an early-onset disorder that typically manifests in infancy or childhood, or already during the pregnancy. Typical clinical findings include enlarged and cystic kidneys, renal failure, infantile pulmonary hypoplasia, hypertension, and hepatic fibrosis. PKD1 mutations are responsible for about 85% of ADPKD cases. Patients with polycystic kidney disease and tuberous sclerosis have been described. This phenotype is a continuous gene deletion syndrome involving the PKD1 and TSC2 genes, which are closely located on chromosome 16p13.3.

The polycystic kidney disease and related disorders NGS panel consists of twenty-two genes: ALG9, ANKS6, ATP6V0A4, BICC1, GANAB, GLIS3, HNF1B, INVS, LRP5, MUC1, NOTCH2, NPHP3, OFD1, PKD1, PKD2, PKHD1, SEC61A1, TMEM231, TSC1, TSC2, UMOD and ZNF423.

 Gene

Disorder

MIM

Inheritance

ALG9

Gillessen-Kaesbach-Nishimura syndrome (GIKANIS)

263210

AR

ANKS6

Nephronophthisis 16 (NPHP16)

615382

AR

ATP6V0A4

Polycystic kidney disease, ATP6V0A4 related

Renal tubular acidosis, distal, autosomal recessive (RTADR)

-

602722

AR

AR

BICC1

Cystic renal dysplasia (CYSRD)

601331

AD

GANAB

Polycystic kidney disease 3 (PKD3)

600666

AD

GLIS3

Diabetes mellitus, neonatal, with congenital hypothyroidism (NDH)

610199

AR

HNF1B

Renal cysts and diabetes syndrome (RCAD)

137920

AD

INVS

Nephronophthisis 2, infantile (NPHP2)

602088

AR

LRP5

Polycystic liver disease 4 with or without kidney cysts

617875

AD

MUC1

Medullary cystic kidney disease 1 (MCKD1)

174000

AD

NOTCH2

Alagille syndrome 2 (ALGS2)

Hajdu-Cheney syndrome (HJCYS)

610205

102500

AD

AD

NPHP3

Meckel syndrome,type 7 (MKS7)

Nephronophthisis 3 (NPHP3)

Renal-hepatic-pancreatic dysplasia 1 (RHPD1)

267010

604387

208540

AR

AR

AR

OFD1

Joubert syndrome 10 (JBTS10)

Orofaciodigital syndrome I (OFD1)

Simpson-Golabi-Behmel syndrome, type 2 (SGBS2)

300804

311200

300209

XLR

XLD

XLR

PKD1

Polycystic kidney disease 1 (PKD1)

173900

AD

PKD2

Polycystic kidney disease 2 (PKD2)

613095

AD

PKHD1

Polycyctic kidney disease, autosomal recessive (ARPKD)

263200

AR

SEC61A1

Hyperuricemic nephropathy, familial juvenile, 4 (HNFJ4)

617056

AD

TMEM231

Joubert syndrome 20 (JBTS20)

Meckel syndrome 11 (MKS11)

614970

615397

AR

AR

TSC1

Tuberous sclerosis 1 (TSC1)

191100

AD

TSC2

Tuberous sclerosis 2 (TSC2)

613254

AD

TSC2 and PKD1

Polycystic kidney disease, infantile severe, with tuberous sclerosis

600273

AD

UMOD

Glomerulocystic kidney disease with hyperuricemia and isosthenuria

Hyperuricemic nephropathy, familial juvenile 1 (HNFJ1)

Medullary cystic kidney disease 2 (MCKD2)

609886

162000

603860

AD

AD

AD

ZNF423

Joubert syndrome 19 (JBTS19)

Nephronophthisis 14 (NPHP14)

614844

614844

AD / AR

AD / AR
Testing Schedule
Monday-Friday
Genes
ALG9, ANKS6, ATP6V0A4, BICC1, GANAB, GLIS3, HNF1B, INVS, LRP5, NOTCH2, NPHP3, OFD1, PKD1, PKD2, PKHD1, SEC61A1, TMEM231, TSC1, TSC2, UMOD, ZNF423
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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