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Test Code
5135
Test Name
Distal Arthrogryposes 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
DA
Description

The distal arthrogryposes (DA) are a group of disorders that mainly involve the distal parts of the limbs. They are characterized by non-progressive congenital contractures of the upper and lower limbs not due to a primary neurologic or muscle disease. Other common findings include camptodactyly, clubfoot, facial dysmorphism, epicanthal folds, strabismus, ptosis, short stature and scoliosis. DA9, which is caused by mutations in the FBN2, is characterized by marfanoid phenotype. All DA types except DA5D are autosomal dominant disorders.

The distal arthrogryposes NGS panel consists of ten genes: ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3 and TPM2.

 

Gene

Disorder

MIM

Inheritance

ECEL1

Arthrogryposis, distal, type 5D (DA5D)

615065

AR

FBN2

Arthrogryposis, distal, type 9 (DA9)

(Contractural arachnodactyly, congenital; CCA)

121050

AD

MYBPC1

Arthrogryposis, distal, type 1B (DA1B)

Lethal congenital contracture syndrome 4 (LCCS4)

614335

614915

AD

AR

MYH3

Arthrogryposis, distal, type 2A (DA2A)

Arthrogryposis, distal, type 2B (DA2B)

Arthrogryposis, distal, type 8 (DA8)

193700

601680

178110

AD

AD

AD

MYH8

Arthrogryposis, distal, type 7 (DA7)

158300

AD

NALCN

Congenital contractures of the limbs and face,

hypotonia, and developmental delay (CLIFAHDD)

Hypotonia, infantile, with psychomotor retardation

and characteristic facies 1 (IHPRF1)

616266

615419

AD

AR

PIEZO2

Arthrogryposis, distal, type 3 (DA3)

Arthrogryposis, distal, type 5 (DA5)

Arthrogryposis, distal, with impaired

proprioception and touch (DAIPT)

Marden-Walker syndrome (MWKS)

114300

108145

617146

248700

AD

AD

AR

AD

TNNI2

Arthrogryposis, distal, type 2B (DA2B)

601680

AD

TNNT3

Arthrogryposis, distal, type 2B (DA2B)

601680

AD

TPM2

Arthrogryposis, distal, type 1A (DA1A)

Arthrogryposis, distal, type 2B (DA2B)

Nemaline myopathy 4, autosomal dominant (NEM4)

108120

601680

609285

AD

AD

AD
Testing Schedule
Monday-Friday
Genes
ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2
MIM
108120, 108145, 114300, 121050, 158300, 193700, 601680, 614335, 615065, 616266
Disease Group
Skeletal Disorders
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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