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Test Code
5396
Test Name
Nephronophthisis 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

Nephronophthisis (NPH) is characterized by a reduced concentrating ability of the kidney, chronic tubulointerstitial nephritis, and cystic kidney disease that lead to renal failure. There are three clinical subtypes based on the age of onset: infantile, juvenile, and late onset. Infantile NPH can present as prenatal oliguria and oligohydramnios leading to postnatal respiratory failure and death, or the onset can be postnatal with severe renal failure in the first years of life. Juvenile NPH is the most common form. Clinical findings typically include polydipsia, polyuria, growth retardation, anemia, and renal failure at a median age of 13 years. Clinical features of the late onset NPH are similar to juvenile NPH. Approximately 80 to 90% of the NPH cases are non-syndromic. Approximately 10 to 20% are associated with syndromes, such as Joubert, Senior-Loken, or COACH.

The nephronophthisis and related disorders NGS panel consists of twenty-nine genes: AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1, GLIS2, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, TMEM138, TMEM216, TMEM67, TRAF3IP1, TTC21B, WDR19, XPNPEP3 and ZNF423.

Gene

Disorder

MIM

Inheritance

AHI1

Joubert syndrome-3 (JBTS3)

608629

AR

ANKS6

Nephronophthisis 16 (NPHP16)

615382

AR

CC2D2A

COACH syndrome

216360

AR

CEP164

Nephronophthisis 15 (NPHP15)

614845

AR

CEP290

Joubert syndrome 5 (JBTS5)

610188

AR

CEP41

Joubert syndrome 15 (JBTS15)

614464

AR

CEP83

Nephronophthisis 18 (NPHP18)

615862

AR

DCDC2

Nephronophthisis 19 (NPHP19)

616217

AR

FAN1

Interstitial nephritis, karyomegalic (KMIN)

614817

AR

GLIS2

Nephronophthisis 7 (NPHP7)

611498

AR

INVS

Nephronophthisis 2, infantile (NPHP2)

602088

AR

IQCB1

Senior-Loken syndrome 5 (SLSN5)

609254

AR

MAPKBP1

Nephronophthisis 20 (NPHP20)

617271

AR

NEK8

Nephronophthisis 9 (NPHP9)

613824

AR

NPHP1

Nephronophthisis 1, juvenile (NPHP1)

Joubert syndrome 4 (JBTS4)

Senior-Loken syndrome-1 (SLSN1)

256100

609583

266900

AR

AR

AR

NPHP3

Nephronophthisis 3 (NPHP3)

604387

AR

NPHP4

Nephronophthisis 4 (NPHP4)

Senior-Loken syndrome 4 (SLSN4)

606966

606996

AR

AR

OFD1

Joubert syndrome 10 (JBTS10)

Orofaciodigital syndrome I (OFD1)

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

300804

311200

300209

XLR

XLD

XLR

PKHD1

Polycystic kidney and hepatic disease (ARPKD)

263200

AR

RPGRIP1L

COACH syndrome   

Joubert syndrome 7 (JBTS7)

216360

611560

AR

AR

SDCCAG8

Senior-Loken syndrome 7 (SLSN7)

613615

AR

TMEM138

Joubert syndrome 16 (JBTS16)

614465

AR

TMEM216

Joubert syndrome 2 (JBTS2)

608091

AR

TMEM67

COACH syndrome

Joubert syndrome 6 (JBTS6)

Nephronophthisis 11 (NPHP11)

216360

610688

613550

AR

AR

AR

TRAF3IP1

Senior-Loken syndrome 9 (SLSN9)

616629

AR

TTC21B

Nephronophthisis 12 (NPHP12)

613820

AD / AR

WDR19

Nephronophthisis 13 (NPHP13)   

Senior-Loken syndrome 8 (SLSN8)

614377

616307

AR

AR

XPNPEP3

Nephronophthisis-like nephropathy 1 (NPHPL1)

613159

AR

ZNF423

Nephronophthisis 14 (NPHP14)

Joubert syndrome 19 (JBTS19)

614844

614844

AD / AR

AD / AR
Testing Schedule
Monday-Friday
Genes
AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1, GLIS2, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, TMEM138, TMEM216, TMEM67, TRAF3IP1, TTC21B, WDR19, XPNPEP3, 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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