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X-Linked Adrenoleukodystrophy via the ABCD1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
ABCD1 81405 81405,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7557ABCD181405 81405,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Greg Fischer, PhD

Clinical Features and Genetics

Clinical Features

X-linked adrenoleukodystrophy (X-ALD) is a congenital neurodegenerative disorder due to deficient beta-oxidation of very long-chain fatty acids (VLCFAs) in peroxisomes. It is the most common inherited peroxisomal disorder and affects 1 in 18,000 individuals (Steinberg et al. 2012; Kemp et al. 2012).

In affected male hemizygotes, the two main clinical phenotypes are cerebral X-ALD (CALD) and adrenomyeloneuropathy (AMN). CALD is the most severe form of X-ALD associated with rapid progression of inflammatory cerebral demyelization. The first symptoms of CALD usually appear between the age of 4 and 12 years as behavioral problems, such as attention deficit and hyperactivity. Then the patients rapidly develop severe neurologic and cognitive deterioration, including blindness, deafness, cerebella ataxia, seizures, dementia, hemiplegia or quadriparesis, and often die within two to five years after diagnosis. AMN is the milder, adult form of X-ALD with the age of onset between 20 and 30 years. Unlike CALD, AMN is a slowly progressive distal axonopathy disorder which affects sensory ascending and motor descending spinal cord tracts. The clinical presentation includes stiffness or weakness of legs, impaired sphincter control, sexual dysfunction, alopecia, and spastic paraplegia. Up to 20% of AMN male patients may develop CALD symptoms later. Adrenocortical insufficiency (Addison disease) is found in most boys with CALD and in about 70% of males with AMN. About 10% of affected males present with adrenocortical insufficiency only, but may develop AMN phenotype later in life (Steinberg et al. 2012; Kemp et al. 2012; Berger et al. 2014).

Approximately 20- 65% of heterozygous female carriers develop milder AMN symptoms with an average onset later than in males (age > 40 years). Cerebral X-ALD has been reported in a few female cases, but is extremely rare. Adrenal function usually is normal in female carriers, and less than 5% of female AMN patients have adrenocortical insufficiency (Steinberg et al. 2012; Kemp et al. 2012).


X-linked adrenoleukodystrophy is inherited in an X-linked recessive manner, and the ABCD1 gene is the only known genetic cause of X-ALD. ABCD1 contains 10 exons and encodes a transmembrane protein that transports VLCFAs (C24:0, C26:0 and others) into the peroxisomes for beta-oxidation. The penetrance is 100% in male hemizygotes. Approximately 20- 65% of heterozygous female carriers develop the disorder due to skewed X-inactivation. Gonadal or gonosomal mosaicism has been observed. About 4-12% of reported patients have a de novo ABCD1 mutation (Wang et al. 2011; Shimozawa et al; 2011; Kemp et al. 2001). Of over 1,500 reported mutations, ~60% are missense substitutions, ~22% frame shifts, ~10% nonsense mutations, ~3% amino acid deletions/insertions and 3-6% gross deletions/duplications (http://www.x-ald.nl; Steinberg et al. 2012; Kemp et al. 2001; Shimozawa et al. 2011). Reported missense mutations are commonly found in the transmembrane domain or in the ATP binding domain, and rarely in the C-terminal 52 amino acids (693-745) (Kemp et al. 2012). There is no phenotype-genotype correlation established. The same mutations can result in all different X-ALD phenotypes (Kemp et al. 2001).

Clinical Sensitivity - Sequencing with CNV PG-Select

Over 93% of patients with X-ALD are caused by ABCD1 mutations which can be detected by Sanger sequencing. Gross deletions/duplications account for the remaining ~7% of causative mutations (http://www.x-ald.nl; Steinberg et al. 2012).

Testing Strategy

This test provides full coverage of all coding exons of the ABCD1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Individuals with clinical symptoms of X-ALD.


Official Gene Symbol OMIM ID
ABCD1 300371
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Adrenoleukodystrophy XL 300100


  • Berger J, Forss-Petter S, Eichler FS. 2014. Pathophysiology of X-linked adrenoleukodystrophy. Biochimie 98: 135142. PubMed ID: 24316281
  • Kemp S, Berger J, Aubourg P. 2012. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. Biochim. Biophys. Acta 1822: 14651474. PubMed ID: 22483867
  • Kemp S, Pujol A, Waterham HR, Geel BM van, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW. 2001. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum. Mutat. 18: 499515. PubMed ID: 11748843
  • Raymond et al. 2018. PubMed ID: 20301491
  • Shimozawa N, Honda A, Kajiwara N, Kozawa S, Nagase T, Takemoto Y, Suzuki Y. 2011. X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan. J. Hum. Genet. 56: 106109. PubMed ID: 21068741
  • Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer CJ, Watkins PA, Snowden A, Moser A, Naidu S, Bibat G, Hewson S, et al. 2011. X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. Mol. Genet. Metab. 104: 160166. PubMed ID: 21700483
  • X-linked Adrenoleukodystrophy Database


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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