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Test Code
5237
Test Name
Amyotrophic Lateral Sclerosis And Related Disorders NGS Panel
CPT Codes
81403, 81404, 81405, 81406, 81407, 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
ALS
Description

Amyotrophic lateral sclerosis (ALS) is a fatal, progressive, adult onset neurodegenerative disorder characterized by degeneration of both upper and lower motor neurons. The main symptoms include muscle fasciculations, cramps, weakness and wasting, muscle spasticity, slurred or nasal speech, and difficulties in chewing or swallowing. ALS can be sporadic or familial. The mean age of onset for sporadic and familial ALS is approximately 56 and 46 years old, respectively. Average disease duration is about three years. Death usually results from compromise of the respiratory muscles. Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders NGS panel consists of genes whose mutations cause or predispose ALS.

The Amyotrophic lateral sclerosis and related disorders NGS panel includes twenty-four genes: ALS2, ANG, ARHGEF28, CHCHD10, CHMP2B, ERBB4, FIG4, FUS, HNRNPA1, HNRNPA2B1, MATR3, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, and VCP.

 

Gene

Disorder

MIM

Inheritance

ALS2

Amyotrophic lateral sclerosis 2, juvenile (ALS2)

205100

AR

ANG

Amyotrophic lateral sclerosis 9 (ALS9)

611895

AD

ARHGEF28

Amyotrophic lateral sclerosis, ARHGEF28 related

-

AD / AR

CHCHD10

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2)

615911

AD

CHMP2B

Amyotrophic lateral sclerosis 17 (ALS17)

614696

AD

ERBB4

Amyotrophic lateral sclerosis 19 (ALS19)

615515

AD

FIG4

Amyotrophic lateral sclerosis 11 (ALS11)

612577

AD

FUS

Amyotrophic lateral sclerosis 6, with or

  without frontotemporal dementia (ALS6)

608030

AD / AR

HNRNPA1

Amyotrophic lateral sclerosis 20 (ALS20)

615426

AD

HNRNPA2B1

Multisystem proteinopathy and amyotrophic lateral sclerosis

-

AD

MATR3

Amyotrophic lateral sclerosis 21 (ALS21)

606070

AD

OPTN

Amyotrophic lateral sclerosis 12 (ALS12)

613435

AD / AR

PFN1

Amyotrophic lateral sclerosis 18 (ALS18)

614808

AD

SETX

Amyotrophic lateral sclerosis 4, juvenile (ALS4)

602433

AD

SIGMAR1

Amyotrophic lateral sclerosis 16, juvenile (ALS16)

614373

AR

SOD1

Amyotrophic lateral sclerosis 1 (ALS1)

105400

AD / AR

SPG11

Amyotrophic lateral sclerosis 5, juvenile (ALS5)

602099

AR

SQSTM1

Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3)

616437

AD

TARDBP

Amyotrophic lateral sclerosis 10, with or without FTD (ALS10)

612069

AD

TBK1

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4)

616439

AD

TUBA4A

Amyotrophic lateral sclerosis 22 with or

without frontotemporal dementia (ALS22)

616208

AD

UBQLN2

Amyotrophic lateral sclerosis 15, with or

without frontotemporal dementia (ALS15)

300857

XLD

VAPB

Amyotrophic lateral sclerosis 8 (ALS8)

608627

AD

VCP

Amyotrophic lateral sclerosis 14, with or

without frontotemporal dementia (ALS14)

613954

AD
Testing Schedule
Monday-Friday
Genes
ALS2, ANG, ARHGEF28, CHCHD10, CHMP2B, ERBB4, FIG4, FUS, HNRNPA1, HNRNPA2B1, MATR3, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP
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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