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Leukodystrophy and Leukoencephalopathy, Adult Onset Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
AARS2 81479,81479
ABCD1 81405,81479
ARSA 81405,81479
CBS 81406,81479
CLCN2 81479,81479
COL4A1 81408,81479
COL4A2 81479,81479
CSF1R 81479,81479
CTSA 81479,81479
CYP27A1 81479,81479
DARS2 81479,81479
EIF2B1 81479,81479
EIF2B2 81405,81479
EIF2B3 81406,81479
EIF2B4 81406,81479
EIF2B5 81406,81479
GALC 81479,81479
GBE1 81479,81479
GFAP 81405,81479
GJC2 81479,81479
GLA 81405,81479
HTRA1 81405,81479
LMNB1 81479,81479
MTHFR 81479,81479
NKX6-2 81479,81479
NOTCH3 81406,81479
PLP1 81405,81404
POLG 81406,81479
POLR3A 81479,81479
POLR3B 81479,81479
PSAP 81479,81479
RNF216 81479,81479
TREM2 81479,81479
TREX1 81479,81479
TUBB4A 81479,81479
TYMP 81405,81479
TYROBP 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
12623Genes x (37)81479 81404(x1), 81405(x8), 81406(x6), 81408(x1), 81479(x58) $990 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

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


  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Adult onset leukodystrophies and leukoencephalopathies are rare groups of inherited heterogeneous disorders progressively leading to degeneration of white matter in the brain with or without peripheral nervous system involvement. The primary pathology of classical leukodystrophy involves the myelin sheath, whereas the pathology of genetic leukoencephalopathy results from neuronal or systemic defects. When white matter tracts are affected, motor impairment nearly always occurs. Common features of adult-onset leukodystrophies and leukoencephalopathies are progressive cognitive impairment, neuropsychiatric changes, spasticity, apraxia, ataxia and seizures (Vanderver et al. 2015. PubMed ID: 25649058; Kevelam et al. 2016. PubMed ID: 27564080; Lynch et al. 2017. PubMed ID: 28334938; Lynch et al. 2019. PubMed ID: 30467211). Other features vary depending on the specific disorder. Overall incidence is not precisely known. To our knowledge, there are no known differences between males and females.

MRI studies are very useful in the diagnosis of patients with leukoencephalopathies. They may facilitate the diagnosis of specific etiologic entities (Schiffmann and van der Knaap. 2009. PubMed ID: 19237705).

As adult onset leukodystrophy and leukoencephalopathy can be caused by abnormalities in a number of genes with variable and overlapping presentations, they can be difficult to diagnose by clinical manifestation and image study only. An accurate diagnosis is critical for treatment, prognosis, prediction of recurrence risk, as well as future family plans.


This panel includes genes which are involved in adult onset or late onset leukodystrophies and leukoencephalopathies. However, defects in some of the genes can lead to both early onset and adult onset leukodystrophy and leukoencephalopathy. Examples include the 5 genes that code for the heteropentameric protein EIF2B and CSF1R (Konno et al. 2017. PubMed ID: 27680516; Rannikmäe et al. 2015. PubMed ID: 25653287; Finnsson et al. 2015. PubMed ID: 26053668; Lynch et al. 2017. PubMed ID: 28334938; Lynch et al. 2019. PubMed ID: 30467211). Adult onset leukodystrophy and leukoencephalopathy can be inherited in an autosomal dominant, autosomal recessive or X-linked manner. The covers the following adult onset leukodystrophies and leukoencephalopathies:

(1) hereditary diffuse leukoencephalopathy with spheroids (CSF1R)

(2) adult onset leukodystrophy, autosomal dominant (LMNB1)

(3) cerebral autosomal dominant /recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL, CARASIL) (NOTCH3, HTRA1)

(4) brain small vessel disease (COL4A1 and COL4A2)

(5) leukoencephalopathy, progressive, with ovarian failure (AARS2)

(6) leukoencephalopathy with vanishing white matter disease (EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5)

(7) X linked adrenoleukodystrophy (ABCD1)

(8) metachromatic leukodystrophy (ARSA)

(9) Alexander disease (GFAP)

(10) Hypomyelinating disorders (PLP1, GJC2, NKX6-2, POLR3A, POLR3B, TUBB4A, CLCN2)

(11) Aicardi-Goutieres syndrome 1 (TREX1)

(12) Mitochondrial disorders (POLG, TYMP)

(13) several other genes for which late onset cases have been reported (CBS, CYP27A1, GLA, GBE1, GALC, CTSA, DARS2, MTHFR, PSAP, RNF216, TREM2, TYROBP).

Treatments are currently available for a few of these disorders, for example, cerebrotendinous xanthomatosis (CYP27A1), and methylenetetrahydrofolate reductase deficiency (MTHFR).

A wide variety of causative variants in these genes have been reported including missense, nonsense, splicing, small insertions/deletions, large deletions/duplications and complex rearrangements (Human Gene Mutation Database). De novo pathogenic variants are common in some of the genes such as CSF1R, COL4A1 and COL4A2.

See individual gene summaries for detailed information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

This panel contains genes which are causative for adult onset leukodystrophy and leukoencephalopathy. Sensitivity is variable depending on different disorders. The Queen Square Adult Leukodystrophy Group (QSALG) investigated 116 patients with a wide variety of white matter syndromes and found that the most common causes are small vessel disease (11 patients), followed by CSF1R pathogenic variants (9 patients), mitochondrial diseases (4 patients) and adrenoleukodystrophy (4 patients) (supplementary figure 1 in Lynch et al. 2019. PubMed ID: 30467211).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.5% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

This panel is recommended for patients suspected to have adult onset leukodystrophy or leukoencephalopathy.


Name Inheritance OMIM ID
Adrenoleukodystrophy XL 300100
Aicardi-Goutieres Syndrome 1 AD 225750
Alexander Disease AD 203450
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps AD 611773
CARASIL Syndrome AR 600142
Cerebellar ataxia and hypogonadotropic hypogonadism AR 212840
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 AD 616779
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy AD 125310
Cerebrotendinous Xanthomatosis AR 213700
Combined Oxidative Phosphorylation Deficiency 8 AR 614096
Combined Saposin Deficiency AR 611721
Dystonia 4, Torsion AD 128101
eukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant AD 169500
Fabry's Disease XL 301500
Galactosialidosis AR 256540
Galactosylceramide Beta-Galactosidase Deficiency AR 245200
Glycogen Storage Disease Type IV AR 232500
Homocystinuria Due To Cbs Deficiency AR 236200
Homocystinuria due to MTHFR Deficiency AR 236250
Krabbe Disease Atypical Due To Saposin A Deficiency AR 611722
Lateral meningocele syndrome AD 130720
Leukodystrophy, Hypomyelinating, 2 AR 608804
Leukodystrophy, Hypomyelinating, 6 AD 612438
Leukodystrophy, Hypomyelinating, 7, with Or wthout Oligodontia and/or Hypogonadotropic Hypogonadism AR 607694
Leukodystrophy, Hypomyelinating, 8, with Or without Oligodontia and/or Hypogonadotropic Hypogonadism AR 614381
Leukoencephalopathy with Ataxia AR 615651
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation AR 611105
Leukoencephalopathy With Vanishing White Matter AR 603896
Leukoencephalopathy, Diffuse Hereditary, with Spheroids AD 221820
Leukoencephalopathy, Progressive, with Ovarian Failure AR 615889
Metachromatic Leukodystrophy AR 250100
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant AD 618564
Mitochondrial DNA Depletion Syndrome 4B, Mngie Type AR 613662
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome AR 603041
Pelizaeus-Merzbacher Disease XL 312080
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy AR 221770
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 AR 618193
Polyglucosan body disease, adult form AR 263570
Porencephaly 1 AD 175780
Porencephaly 2 AD 614483
Progressive Sclerosing Poliodystrophy AR 203700
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy AR 617560
Spastic Paraplegia 2 XL 312920
Sphingolipid Activator Protein 1 Deficiency AR 249900
Vasculopathy, Retinal, With Cerebral Leukodystrophy AD 192315
Wiedemann-Rautenstrauch syndrome AR 264090

Related Test



  • Finnsson et al. 2015. PubMed ID: 26053668
  • Human Gene Mutation Database (Biobase).
  • Kevelam et al. 2016. PubMed ID: 27564080
  • Konno et al. 2017. PubMed ID: 27680516
  • Lynch et al. 2017. PubMed ID: 28334938
  • Lynch et al. 2019. PubMed ID: 30467211
  • Rannikmäe et al. 2015. PubMed ID: 25653287
  • Schiffmann and van der Knaap. 2009. PubMed ID: 19237705
  • Vanderver et al. 2015. PubMed ID: 25649058


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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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