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Test Code
5296
Test Name
Congenital Contracture Syndrome Extended 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; LCCS
Description

Distal arthrogryposes (DA) and lethal congenital contracture syndrome (LCCS) are clinically related, genetically heterogeneous groups of disorders. DA is 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. LCCS is more severe. Typical findings include multiple congenital joint contractures, intrauterine growth retardation, dysmorphic facial features, pulmonary hypoplasia, muscular atrophy, decreased fetal movement and polyhydramnios. Akinesia, hypotonia, areflexia, diaphragmatic atrophy and pterygium may also be present.

The congenital contracture syndrome extended NGS Panel consists of thirty-one genes: ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ECEL1, ERBB3, FBN2, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, RAPSN, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZBTB42 and ZMPSTE24.

Gene

Disorder

MIM

Inheritance

ADCY6

Lethal congenital contracture syndrome 8 (LCCS8)

616287

AR

ADGRG6

Lethal congenital contracture syndrome 9 (LCCS9)

616503

AR

CHRNA1

Multiple pterygium syndrome, lethal type (LMPS)

Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A)

Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B)

253290

601462

608930

AR

AD

AR / AD

CHRND

Multiple pterygium syndrome, lethal type (LMPS)

Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A)

Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B)

Myasthenic syndrome, congenital, 3C, associated with

acetylcholine receptor deficiency (CMS3C)

253290

616321

616322

616323

AR

AD

AR

AR

CHRNG

Multiple pterygium syndrome, lethal type (LMPS)

Multiple pterygium syndrome, Escobar variant (EVMPS)

253290

265000

AR

AR

CNTNAP1

Lethal congenital contracture syndrome 7 (LCCS7)

616286

AR

DNM2

Lethal congenital contracture syndrome 5 (LCCS5)

Charcot-Marie-Tooth disease, dominant intermediate B (CMTDIB)

Myopathy, centronuclear 1 (CNM1)

615368

606482

160150

AR

AD

AD

DOK7

Fetal akinesia deformation sequence (FADS)

Myasthenic syndrome, congenital, 10 (CMS10)

208150

254300

AR

AR

ECEL1

Arthrogryposis, distal, type 5D (DA5D)

615065

AR

ERBB3

Lethal congenital contracture syndrome 2 (LCCS2)

607598

AR

FBN2

Arthrogryposis, distal, type 9 (DA9)

(Contractural arachnodactyly, congenital; CCA)

121050

AD

GLDN

Lethal congenital contracture syndrome 11 (LCCS11)

617194

AR

GLE1

Lethal congenital contracture syndrome 1 (LCCS1)

Arthrogryposis, lethal, with anterior horn cell disease (LAAHD)

253310

611890

AR

AR

LGI4

Arthrogryposis multiplex congenita, LGI4 related

-

AR

LMNA

Restrictive dermopathy, lethal

Charcot-Marie-Tooth disease, axonal, type 2B1 (CMT2B1)

Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)

Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3)

Mandibuloacral dysplasia (MADA)

Muscular dystrophy, congenital, LMNA related

Muscular dystrophy, limb-girdle, type 1B (LGMD1B)

275210

605588

181350

616516

248370

613205

159001

AR

AR

AD

AR

AR

AD

AD

MUSK

Fetal akinesia deformation sequence (FADS)

Myasthenic syndrome, congenital, 9, associated with

acetylcholine receptor deficiency (CMS9)

208150

616325

AR

AR

MYBPC1

Lethal congenital contracture syndrome 4 (LCCS4)

Arthrogryposis, distal, type 1B (DA1B)

614915

614335

AR

AD

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

NEK9

Lethal congenital contracture syndrome 10 (LCCS10)

Arthrogryposis, Perthes disease, and upward gaze palsy (APUG)

617022

614262

AR

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

PIP5K1C

Lethal congenital contracture syndrome 3 (LCCS3)

611369

AR

RAPSN

Fetal akinesia deformation sequence (FADS)

Myasthenic syndrome, congenital, 11, associated with

acetylcholine receptor deficiency (CMS11)

208150

616326

AR

AR

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

VIPAS39

Arthrogryposis, renal dysfunction, and cholestasis 2 (ARCS2)

613404

AR

VPS33B

Arthrogryposis, renal dysfunction, and cholestasis 1 (ARCS1)

208085

AR

ZBTB42

Lethal congenital contracture syndrome 6 (LCCS6)

616248

AR

ZMPSTE24

Restrictive dermopathy, lethal

Mandibuloacral dysplasia with type B lipodystrophy (MADB)

275210

608612

AR

AR
Testing Schedule
Monday-Friday
Genes
ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ECEL1, ERBB3, FBN2, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, RAPSN, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZBTB42, ZMPSTE24
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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