Spondyloenchondrodysplasia with Immune Dysregulation via the ACP5 Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 9151 | ACP5 | 81479 | 81479,81479 | $990 | 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. If the Sanger option is selected, CNV detection may be ordered through Test #600.
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).
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.
Clinical Features and Genetics
Clinical Features
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI, OMIM# 607944) is characterized by autoimmunity, skeletal dysplasia and intracranial calcification and spasticity. Autoimmune features include systemic lupus erythematousus, Sjögren syndrome, thrombocytopenia, hypothyroidism, inflammatory myositis, Raynaud's disease and vitiligo. Skeletal defects include splayed, sclerotic irregular metaphyses of the long bone, platyspondyly and widened metaphyseal ends of ribs. The neurological and immune symptoms are not fully penetrant and are highly variable among patients (Renella, R. and Superti-Furga, A. Am J Med Genet 143A(12): 1394-1395, 2007; Lausch E et al. Nat Genet 43(2): 132-137, 2011; Briggs, T.A. et al. Nat Genet 43(2): 127-131, 2011).
Genetics
SPENCDI caused by mutations in ACP5 is inherited in an autosomal recessive manner. The ACP5 protein, an iron-containing tartrate resistant acid phosphatase (TRAP), plays a role in bone resorption and immune regulation (Lord, D. K. et al. Europ J Biochem 189(2): 287-293, 1990; Lausch, E. et al., 2011; Briggs, T.A. et al., 2011). To date, about 20 unique causative mutations have been identified in SPENCDI patients. These mutations are: four nonsense, eight missense, three small deletions and two large deletions (Briggs, T. A. et al., 2011; Lausch E. et al., 2011).
Clinical Sensitivity - Sequencing with CNV PGxome
Clinical sensitivity is difficult to estimate due to the lack of documented cases. Analytical sensitivity may be high, because 15 out of the 17 reported ACP5 mutations are point mutations or small deletions which are expected to be detected by sequencing. Two large deletions have been reported (Lausch, E. et al. Nat Genet 43(2):132-137, 2011; Briggs, T.A. et al. Nat Genet 43(2): 127-131, 2011; Human Gene Mutation Database).
To date, only two large deletions involving ACP5 have been reported (Briggs, T.A. et al. Nat Genet 43(2): 127-131, 2011; Human Gene Mutation Database).
Testing Strategy
This test provides full coverage of all coding exons of the ACP5 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
Candidates for this test are patients with symptoms consistent with spondyloenchondrodysplasia with immune dysregulation, and the family members of patients who have known ACP5 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ACP5.
Candidates for this test are patients with symptoms consistent with spondyloenchondrodysplasia with immune dysregulation, and the family members of patients who have known ACP5 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ACP5.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| ACP5 | 171640 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Spondyloenchondrodysplasia With Immune Dysregulation | 607944 |
Citations
- Briggs, T.A. et al. (2011). “Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.” Nat Genet 43(2): 127-131. PubMed ID: 21217755
- Briggs, T.A. et al. (2011). “Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.” Nat Genet 43(2): 127-131. PubMed ID: 21217755
- Briggs, T.A. et al. (2011). “Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.” Nat Genet 43(2): 127-131. PubMed ID: 21217755
- Briggs, T.A. et al. (2011). “Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.” Nat Genet 43(2): 127-131. PubMed ID: 21217755
- Human Gene Mutation Database (Bio-base).
- Human Gene Mutation Database (Bio-base).
- Lausch, E. et al. (2011). “Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.” Nat Genet 43(2):132-137. PubMed ID: 21217752
- Lausch, E. et al. (2011). “Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.” Nat Genet 43(2):132-137. PubMed ID: 21217752
- Lausch, E. et al. (2011). “Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.” Nat Genet 43(2):132-137. PubMed ID: 21217752
- Lord, D. K. et al. (1990). “Type 5 acid phosphatase: sequence, expression and chromosomal localization of a differentiation-associated protein of the human macrophage.” Europ J Biochem 189(2): 287-293. PubMed ID: 2338077
- Renella, R. and Superti-Furga, A. (2007). “A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: Comment on 'A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia.” Am J Med Genet 143A(12): 1394-1395. PubMed ID: 17497723
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
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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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.