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AMPD2-Related Disorders via the AMPD2 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
3803 AMPD2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3803AMPD281479 81479,81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

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 backbone).

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

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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

The AMPD2 gene has been associated with at least two disorders: pontocerebellar hypoplasia type 9 (PCH9) and spastic paraplegia 63 (SPG63).

PCH9 is a highly penetrant neurodevelopmental and neurodegenerative disorder characterized by profound psychomotor development delay, progressive microcephaly, spasticity, and brain abnormalities. Some patients also show dysmorphic features, seizures and axonal peripheral neuropathy. More variable features include dystonia, axial hypotonia, hyperreflexia and optic atrophy. Most patients have onset of disease at birth or in early infancy. PCH9 patients with severe global developmental delay often die in early childhood (Akizu et al. 2013. PubMed ID: 23911318; Alazami et al. 2015. PubMed ID: 25558065; Marsh et al. 2015. PubMed ID: 27066553; Marsh et al. 2017. PubMed ID: 28168832).

Novarino et al. (2014) reported SPG63 in a highly consanguineous family. Two cousins in this family presented at 14 months of age with delayed walking. Both patients developed hypotonia and decreased deep tendon reflexes after several years (Novarino et al. 2014. PubMed ID: 24482476).


PCH9 is inherited in an autosomal recessive (AR) manner (Akizu et al. 2013. PubMed ID: 23911318). SPG63 has been reported in only a few cases and the inheritance pattern in the families reported is consistent with AR transmission (Novarino et al. 2014. PubMed ID: 24482476; Vanderver et al. 2016. PubMed ID: 27159321). AMPD2 encodes adenosine monophosphate deaminase-2, which is an enzyme that functions as a homotetramer and plays important roles in energy metabolism by converting AMP to IMP (Akizu et al. 2013. PubMed ID: 23911318). To date, different types of pathogenic variants (missense, nonsense, and frameshift deletions) have been found in the AMPD2 gene (Human Gene Mutation Database). Pathogenic variants in the catalytic AMP deaminase domain cause loss-of-function, which is believed to be the mechanism of PCH9. Studies have shown that the AMPD2 protein is completely or nearly completely absent in patient cells (Akizu et al. 2013. PubMed ID: 23911318).

Clinical Sensitivity - Sequencing with CNV PGxome

It is difficult to estimate the exact clinical sensitivity of this test due to the lack of large cohort studies. All the pathogenic variants in the AMPD2 gene reported to date can be detected by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the AMPD2 gene 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 full 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

Patients with symptoms consistent with AR pontocerebellar hypoplasia or spastic paraplegia may consider this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in AMPD2.


Official Gene Symbol OMIM ID
AMPD2 102771
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Pontocerebellar Hypoplasia Type 9 AR 615809
Spastic Paraplegia 63 AR 615686


  • Akizu et al. 2013. PubMed ID: 23911318
  • Alazami et al. 2015. PubMed ID: 25558065
  • Human Gene Mutation Database (Bio-base).
  • Marsh et al. 2015. PubMed ID: 27066553
  • Marsh et al. 2017. PubMed ID: 28168832
  • Novarino et al. 2014. PubMed ID: 24482476
  • Vanderver et al. 2016. PubMed ID: 27159321


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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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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.
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