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Test Code
5293
Test Name
Cleft Cleft Lip, Palate 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
CL/P
Description

Cleft lip with or without cleft palate (CL/P) is among the most common congenital craniofacial defects. The etiology is complex and both genetic and environmental factors have been implicated. CL/P can be syndromic or nonsyndromic. Connective Tissue Gene Test's cleft lip, cleft palate and related disorders panel focuses on disorders in which CL/P is a major finding. 

The cleft lip, cleft palate and related disorders NGS panel consists of seventeen genes: BMP4, COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, FOXE1, GRHL3, IRF6, MSX1, NECTIN1, SATB2, SUMO1, TBX22, TGDS and TP63.

Gene

Disorder

MIM

Inheritance

BMP4

Orofacial cleft 11 (OFC11)

600625

AD

COL2A1

Stickler syndrome, type I (STL1)

108300

AD

COL11A1

Stickler syndrome, type II (STL2)

Marshall syndrome (MRSHS)

604841

154780

AD

AD

COL11A2

Stickler syndrome, type III (STL3)

184840

AD

COL9A1

Stickler syndrome, type IV (STL4)

614134

AR

COL9A2

Stickler syndrome, type V (STL5)

614284

AR

COL9A3

Stickler syndrome, COL9A3 related

-

AR

FOXE1

Hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate

241850

AR

GRHL3

Van der Woude syndrome 2 (VWS2)

606713

AD

IRF6

Van der Woude syndrome 1 (VWS1)

119300

AD

MSX1

Orofacial cleft 5 (OFC5)

608874

AD

NECTIN1

Cleft lip/palate-ectodermal dysplasia syndrome (CLPED1)

225060

AR

SATB2

Glass syndrome

612313

AD

SUMO1

Orofacial cleft 10 (OFC10)

613705

AD

TBX22

Cleft palate with ankyloglossia, X-linked (CPX)

303400

XL

TGDS

Catel-Manzke syndrome (CATMANS)

616145

AR

TP63

ADULT syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)

Limb-mammary syndrome (LMS)

Rapp-Hodgkin syndrome (RHS) / Orofacial cleft 8 (OFC8) 

Split-hand/foot malformation 4 (SHFM4)

103285

106260

604292

603543

129400

605289

AD

AD

AD

AD

AD

AD
Testing Schedule
Monday-Friday
Genes
BMP4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, FOXE1, GRHL3, IRF6, MSX1, NECTIN1, SATB2, SUMO1, TBX22, TGDS, TP63
Disease Group
Craniosynostosis and Craniofacial Disorders, Dysmorphology
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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