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Aplastic Anemia and Myelodysplastic Syndrome via the SRP72 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
SRP72 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
5271SRP7281479 81479,81479 $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


  • Siwu Peng, PhD

Clinical Features and Genetics

Clinical Features

Aplastic Anemia (AA) is characterized by insufficient hematopoiesis and failure of bone marrow cells to produce enough mature blood cells (red blood cells, white blood cells, and megakaryocytes/platelets). Myelodysplastic syndromes (MDS) are clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis, peripheral blood cytopenias and hypercellular bone marrow. AA and MDS may represent a continuum whereby AA progresses to MDS. In addition, MDS progression to acute myeloid leukemia (AML) has also been reported in up to 40% of patients (Heaney et al. 1999). AA onset can occur at any age, and in most cases the cause is unknown. Less frequently, AA is linked to a hereditary bone marrow failure disorder such as Fanconi anemia, Shwachman-Diamond syndrome, Dyskeratosis Congenita, or Diamond-Blackfan Anemia. In hereditary cases, AA is usually diagnosed in childhood. MDS and AML are most often sporadic, late-onset malignancies. However, recent data indicate that hereditary MDS/AML may have a higher incidence than was thought previously, and may also have a younger age of onset than sporadic cases (Bannon et al. 2016; Churpek and Godley 2016; www.aamds.org for more information). In a recent publication detailing diagnosis and management of inherited myeloid malignancies, Churpek and Godley point out that germline testing was positive in 11-24% of patients who presented reasonable suspicion of an inherited hematopoietic malignancy (Churpek and Godley 2016; see also Zhang et al. 2015; Churpek et al. 2015; Knight Johnson et al. 2015) and note that these detection rates justify germline genetic testing.


Variants in the SRP72 gene are associated with AA, MDS, pancytopenia, and congenital nerve deafness (Kirwan et al. 2012). To date, few families have been identified with pathogenic SRP72 gene variants and AA/MDS, and reported variants include one small deletion resulting in premature protein termination and one missense variant (Kirwan et al. 2012). Inheritance appears to be autosomal dominant with complete penetrance for either AA or MDS. Functional studies have shown that SRP72 protein harboring one of the familial variants described in Kirwan et al. 2012 is mis-localized within cells. SRP72 encodes a component of the signal recognition particle (SRP) responsible for transport of membrane bound and excreted proteins to the endoplasmic reticulum, but exactly how a defect in protein translocation might result in AA/MDS remains unclear (Kirwan et al. 2012).

Clinical Sensitivity - Sequencing with CNV PG-Select

Variants in the SRP72 gene have been reported in only two cases of familial aplastic anemia (AA)/ myelodysplastic syndrome (MDS) (Kirwan et al. 2012). Consequently, although the sensitivity of SRP72 sequencing for AA/MDS patients is not precisely known, it is expected to be low.

To the best of our knowledge, large deletions or duplications have not been reported in the SRP72 gene; one missense variant and a small deletion of two nucleotides resulting in premature protein truncation are the only reported SRP72 variants in AA/MDS patients to date.

Testing Strategy

This test provides full coverage of all coding exons of the SRP72 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with symptoms consistent with AA/MDS, and family members of patients with known pathogenic variants. Targeted testing for familial variants in family members that are potential HLA-matched bone marrow donors is particularly important.


Official Gene Symbol OMIM ID
SRP72 602122
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Bone Marrow Failure Syndrome 1 AD 614675


  • Bannon S.A., DiNardo C.D. 2016. International Journal of Molecular Sciences. 17: N/A. PubMed ID: 27248996
  • Churpek J.E. et al. 2015. Blood. 126: 2484-90. PubMed ID: 26492932
  • Churpek J.E., Godley L.A. 2016. Blood. 128: 1800 PubMed ID: 27471235
  • Heaney ML, Golde DW. 1999. The New England Journal of Medicine. 340: 1649-60. PubMed ID: 10341278
  • Kirwan M. et al. 2012. American Journal of Human Genetics. 90: 888-92. PubMed ID: 22541560
  • Knight Johnson A.E, Guidugli L, Arndt K, et al. 2015. Blood. 126: Abstract 3854
  • Zhang M.Y. et al. 2015. Haematologica. 100: 42-8. PubMed ID: 25239263


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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View Ordering Instructions

1) Select Test Method (Platform)

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2) Select Additional Test Options

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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