Majeed Syndrome via the LPIN2 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
11453 LPIN2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11453LPIN281479 81479(x2) $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. 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 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

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

  • Megan Piazza, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Majeed Syndrome (MS) is diagnosed based on a triad of clinical findings including chronic recurrent multifocal osteomyelitis (CRMO), dyserythropoietic anemia, and inflammatory dermatosis. CRMO onset occurs before two years of age with 1-3 bouts per month lasting a few days. High fever, severe pain, and periarticular tender soft tissue swelling involving large joints are common symptoms during CRMO. Other symptoms may also include neutropenia, hepatomegaly, transient cholestatic jaundice, growth retardation, chronic anemia, and development of permanent flexion contractures. Genetic testing is helpful in confirming diagnosis of MS and for differential diagnosis from other hereditary periodic fevers, congenital dyserythropoietic anemia and sporadic forms of CRMO (Caso et al. 2013). MS is a very rare disorder affecting less than 1 per million individuals (El-Shanti and Ferguson 2013).

Genetics

MS is a fully penetrant disorder that is inherited in an autosomal recessive manner through mutations in the LPIN2 gene. To date, only four families have been reported to have MS with nonsense and small deletion mutations leading to frame shift and premature protein termination being most prevalent. In one case, a missense mutation was identified to cause MS (El-Shanti and Ferguson 2013; Ferguson et al. 2005). No gross deletions have been reported to date (Touitou et al. 2004). Lipin-2  is a member of the lipin enzyme family and facilitates biosynthesis of lipids. Lipin-2 serves as a protective role in regulating inflammation as deletion of the gene leads to enhanced expression of pro-inflammatory cytokines including IL-6, CCL2, and TNF alpha (Valdearcos et al. 2012).

Clinical Sensitivity - Sequencing with CNV PGxome

Analytical sensitivity should be high because all mutations reported are detectable by sequencing. Clinical sensitivity cannot be estimated because only a small number of cases have been reported.

No gross deletions have been reported in literature.

Testing Strategy

This test provides full coverage of all coding exons of the LPIN2 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

Individuals with clinical features consistent with Majeed Syndrome and laboratory findings showing elevated C-reactive protein and erythrocyte sedimentation rates are ideal candidates for testing (El-Shanti and Ferguson 2013). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LPIN2.

Gene

Official Gene Symbol OMIM ID
LPIN2 605519
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Majeed Syndrome AR 609628

Citations

  • Caso F, Rigante D, Vitale A, Lucherini OM, Costa L, Atteno M, Compagnone A, Caso P, Frediani B, Galeazzi M, Punzi L, Cantarini L. 2013. Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues. International Journal of Rheumatology 2013: 1–15. PubMed ID: 24282415
  • El-Shanti H, Ferguson P. 2013. Majeed Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301735
  • Ferguson PJ. 2005. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). Journal of Medical Genetics 42: 551–557. PubMed ID: 15994876
  • Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, Shoham N, Aganna E, Hugot J-P, Wise C, Waterham H, Pugnere D, Demaille J, Sarrauste de Menthiere C. 2004. Infevers: An evolving mutation database for auto-inflammatory syndromes. Human Mutation 24: 194–198. PubMed ID: 15300846
  • Valdearcos M, Esquinas E, Meana C, Pena L, Gil-de-Gomez L, Balsinde J, Balboa MA. 2012. Lipin-2 Reduces Proinflammatory Signaling Induced by Saturated Fatty Acids in Macrophages. J Biol Chem 287: 10894–10904. PubMed ID: 22334674

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

loading Loading... ×

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: $
×
Copy Text to Clipboard
×