Parkinsonism with Spasticity and Mental Retardation with Epilepsy, Hedera Type via the ATP6AP2 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
9821 ATP6AP2 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9821ATP6AP281479 81479(x2) $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

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

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Parkinsonism with spasticity, X-linked presents either as typical adult onset Parkinson’s disease or earlier onset spasticity followed by parkinsonism. The major clinical symptoms are slowly progressive Parkinsonism, cogwheel rigidity, bradykinesia, resting tremor, and masked facies. Onset is variable from 14 to 50 years. Other clinical features may include spasticity, hyperreflexia and extensor plantar response. Some patients showed a response to L-DOPA therapy (Hedera et al. 2002. PubMed ID: 11782983; Ramser et al. 2005. PubMed ID: 15746149; Korvatska et al. 2013. PubMed ID: 23595882).

Mental retardation, X-linked, syndromic, Hedera type is characterized by early infantile onset intellectual disability, generalized tonic-clonic seizures, delayed motor and speech development with variable expressivity. Other features may include Parkinsonism, bradykinesia, gait difficulties, action tremor, ideomotor aprasia and cerebral atrophy (Korvatska et al. 2013. PubMed ID: 23595882; Piton et al. 2013. PubMed ID: 23871722).

Female patients have not been reported to date (Hedera et al. 2002. PubMed ID: 11782983; Ramser et al. 2005. PubMed ID: 15746149; Korvatska et al. 2013. PubMed ID: 23595882).

Genetics

Both Parkinsonism with spasticity, X-linked disorder and Mental retardation, X-linked, syndromic, Hedera type are inherited in an X-linked recessive manner and are caused by pathogenic variants in the ATP6AP2 (Korvatska et al. 2013. PubMed ID: 23595882; Piton et al. 2013. PubMed ID: 23871722). ATP6AP2 encodes ATPase, H+ transporting, lysosomal, accessory protein 2, which is required for lysosomal degradative functions and autophagy, a pathway frequently affected in Parkinson’s disease. Reported pathogenic variants in ATP6AP2 include splicing variants and one large deletion. The large deletion was reported to be causative for intellectual disability (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

For the ATP6AP2 gene, clinical sensitivity in a large cohort of patients with either Parkinsonism with spasticity or mental retardation with epilepsy relevant phenotypes is unavailable in the literature. Analytical sensitivity should be high.

Testing Strategy

This test provides full coverage of all coding exons of the ATP6AP2 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

ATP6AP2 sequencing is recommended for patients who are suspected to have both Parkinsonism with spasticity, X-linked disorder or Mental retardation, X-linked, syndromic, Hedera type. Targeted Sanger sequencing is available for the family members of patients with ATP6AP2 pathogenic variants. Prenatal testing is possible if the genetic diagnosis has been firmly established in an affected family member.

Gene

Official Gene Symbol OMIM ID
ATP6AP2 300556
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Hedera et al. 2002. PubMed ID: 11782983
  • Human Gene Mutation Database (Bio-base).
  • Korvatska et al. 2013. PubMed ID: 23595882
  • Piton et al. 2013. PubMed ID: 23871722
  • Ramser et al. 2005. PubMed ID: 15746149

Ordering/Specimens

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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