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Test Code
5138
Test Name
Joubert 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
Alternate Names
JBTS
Description

Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of disorders characterized by malformation of multiple brainstem structures and vermal agenesis with the characteristic neuroradiologic 'molar tooth sign' on MRI. Other findings may include delayed psychomotor development, ataxia, hypotonia, oculomotor apraxia, retinal dystrophy large head, prominent forehead, epicanthal folds, polysyndactyly, renal anomalies, and hepatic fibrosis. JBTS phenotypically overlaps with several other disorders; Bardet-Biedl syndrome, COACH syndrome, Meckel-Gruber syndrome, nephronophthisis and Senior-Loken syndrome.

The Joubert syndrome and related disorders NGS panel consists of 37 genes: AHI1, ARL13B, ARMC9, B9D1, B9D2, C2CD3, CPLANE1 (C5orf42), CC2D2A, CEP104, CEP120, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, PIBF1, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B and ZNF423.

Gene

Disorder

MIM

Inheritance

AHI1

Joubert syndrome 3 (JBTS3)

608629

AR

ARL13B

Joubert syndrome 8 (JBTS8)

612291

AR

ARMC9

Joubert syndrome 30 (JBTS30)

617622

AR

B9D1

Meckel syndrome, type 9 (MKS9)

614209

AR

B9D2

Meckel syndrome, type 10 (MKS10)

614175

AR

C2CD3

Joubert syndrome, C2CD3 related

Orofaciodigital syndrome XIV (OFD14)

-

615948

AR

AR

CPLANE1(C5orf42)

Joubert syndrome 17 (JBTS17)

Orofaciodigital syndrome VI (OFD6)

614615

277170

AR

AR

CC2D2A

COACH syndrome

Joubert syndrome 9 (JBTS9)

Meckel syndrome, type 6 (MKS6)

216360

612285

612284

AR

AR

AR

CEP104

Joubert syndrome 25 (JBTS25)

616781

AR

CEP120

Joubert syndrome 31 (JBTS31)

617761

AR

CEP290

Bardet-Biedl syndrome 14 (BBS14)

Joubert syndrome 5 (JBTS5)

Leber congenital amaurosis 10 (LCA10)

Meckel syndrome, type 4 (MKS4)

Senior-Loken syndrome 6 (SLSN6)

615991

610188

611755

611134

610189

AR

AR

AR

AR

AR

CEP41

Joubert syndrome 15 (JBTS15)

614464

AR

CSPP1

Joubert syndrome 21 (JBTS21)

615636

AR

INPP5E

Joubert syndrome 1 (JBTS1)

213300

AR

KIAA0556

Joubert syndrome 26 (JBTS26)

616784

AR

KIAA0586

Joubert syndrome 23 (JBTS23)

616490

AR

KIF14

Meckel syndrome 12 (MKS12)

616254

AR

KIF7

Acrocallosal syndrome (ACLS)

Joubert syndrome 12 (JBTS12)

200990

200990

AR

AR

MKS1

Bardet-Biedl syndrome 13 (BBS13)

Meckel syndrome, type 1 (MKS1)

615990

249000

AR

AR

NPHP1

Joubert syndrome 4 (JBTS4)

Nephronophthisis 1 (NPHP1)

Senior-Loken syndrome 1 (SLSN1)

609583

256100

266900

AR

AR

AR

NPHP3

Meckel syndrome, type 7 (MKS7)

Nephronophthisis 3 (NPHP3)

267010

604387

AR

AR

OFD1

Joubert syndrome 10 (JBTS10)

Orofaciodigital syndrome I (OFD1)

Simpson-Golabi-Behmel syndrome, type 2

300804

311200

300209

XL

XL

XL

PDE6D

Joubert syndrome 22 (JBTS22)

615665

AR

PIBF1

Joubert syndrome 33 (JBTS33)

607532

AR

RPGRIP1L

COACH syndrome

Joubert syndrome 7 (JBTS7)

Meckel syndrome, type 5 (MKS5)

216360

611560

611561

AR

AR

AR

SUFU

Joubert syndrome 32 (JBTS32)

617757

AR

TCTN1

Joubert syndrome 13 (JBTS13)

614173

AR

TCTN2

Meckel syndrome, type 8 (MKS8)

Joubert syndrome 24 (JBTS24)

613885

616654

AR

AR

TCTN3

Joubert syndrome 18 (JBTS18)

Orofaciodigital syndrome IV (OFD4)

614815

258860

AR

AR

TMEM107

Joubert syndrome 29 (JBTS29)

617562

AR

TMEM138

Joubert syndrome 16 (JBTS16)

614465

AR

TMEM216

Joubert syndrome 2 (JBTS2)

Meckel syndrome, type 2 (MKS2)

608091

603194

AR

AR

TMEM231

Joubert syndrome 20 (JBTS20)

Meckel syndrome, type 11 (MKS11)

614970

615397

AR

AR

TMEM237

Joubert syndrome 14 (JBTS14)

614424

AR

TMEM67

COACH syndrome

Joubert syndrome 6 (JBTS6)

Meckel syndrome, type 3 (MKS3)

Nephronophthisis 11 (NPHP11)

216360

610688

607361

613550

AR

AR

AR

AR

TTC21B

Nephronophthisis 12 (NPHP12)

Joubert syndrome 11 (JBTS11)

Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4)

613820

613820

613819

AR

AR

AR

ZNF423

Nephronophthisis 14 (NPHP14)

Joubert syndrome 19 (JBTS19)

614844

614844

AR

AR
Testing Schedule
Monday-Friday
Genes
AHI1, ARL13B, ARMC9, B9D1, B9D2, C2CD3, CC2D2A, CEP104, CEP120, CEP290, CEP41, CPLANE1 (C5orf42), CSPP1, INPP5E, KIAA0556, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, PIBF1, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
MIM
200990, 213300, 216360, 249000, 256100, 258860, 266900, 267010, 277170, 300209, 300804, 311200, 603194, 604387, 607361, 608091, 608629, 609583, 610188, 610189, 610688, 611134, 611560, 611561, 611755, 612284, 612285, 612291, 613550, 613819, 613820, 613885, 614173, 614175, 614209, 614424, 614464, 614465, 614615, 614815, 614844, 614970, 615397, 615636, 615665, 615990, 615991
Disease Group
Neuromuscular
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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