Paroxysmal Paralytic Rhabdomyolysis via the LPIN1 Gene, Exons 18-19 Deletion

Summary and Pricing

Test Method

Targeted Deletion Testing via PCR
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
319 LPIN1 81479 81479 $250 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
319LPIN181479 $250 Order Options and Pricing

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 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

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Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Familial paroxysmal paralytic rhabdomyolysis with myoglobinuria (OMIM 268200), also known as childhood recurrent acute myoglobinuria is a rare and life-threatening disease of young children, in which prompt diagnosis and treatment are critical (Tein et al. Adv Pediatr 37:77-117, 1990). Early symptoms typically begin before the age of seven years and consist of generalized weakness, inability to walk, myalgia, and dark urine. Recurrent episodes of myoglobinuria are frequent features of the disease. Additional features include cardiac abnormalities, marked sensitivity over the thighs and calf muscles, muscle hypotonia, and renal failures. The episodes are triggered by febrile illnesses and persist for several days; they are characterized by concomitant elevated levels of plasma creatine kinase and aspartate aminotransferase (Ramesh and Gardner-Medwin Dev Med Child Neurol 34:73-79, 1992; Zeharia et al. Am J Hum Genet 83:489-494, 2008).

Genetics

Familial cases of paroxysmal paralytic rhabdomyolysis with myoglobinuria have been reported (Christensen et al. Dan Med Bull 30:112-115, 1983; Ramesh and Gardner-Medwin Dev Med Child Neurol 34:73-79, 1992). In these families, the disease appeared to be transmitted as an autosomal recessive trait. Paroxysmal paralytic rhabdomyolysis is caused by variants in the LPIN1 gene (Zeharia et al. Am J Hum Genet 83:489-494, 2008). Variants include nonsense, missense, splicing, small deletions or insertions, and one 2-kb deletion that spans exons 18-19. This deletion appears to be common in patients of European ancestry (Michot et al. Hum Mutat 31:E1564-1573, 2010).

Clinical Sensitivity - Targeted Deletion

This deletion was found in nearly 50% of patients with detectable variants (Michot et al. Hum Mutat 31:E1564-73, 2010).

Testing Strategy

The LPIN1 gene encodes Lipin-1, phosphatidic acid phosphatase, which catalyzes the conversion of phosphatidic acid to diacylglycerol in the triacylglycerol synthesis pathway. This test involves amplification of patient DNA with a specific pair of PCR primers that flank the common LPIN1 exons 18-19 deletion. In normal chromosomes, the PCR primers are ~3 kb apart, and no PCR product is generated. From chromosomes carrying the deletion, an 860-bp PCR product is produced. PreventionGenetics also offers a sequencing test for the LPIN1 gene (Test #369).

Indications for Test

Children presenting with recurrent episodes of myoglobinuria associated with elevated levels of plasma creatine kinase.

Gene

Official Gene Symbol OMIM ID
LPIN1 605518
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Myoglobinuria, Acute Recurrent, Autosomal Recessive AR 268200

Related Test

Name
Paroxysmal Paralytic Rhabdomyolysis via the LPIN1 Gene

Citations

  • Christensen, T. E., et.al. (1983). "Familial myoglobinuria. A study of muscle and kidney pathophysiology in three brothers." Dan Med Bull 30(2): 112-5. PubMed ID: 6851679
  • Michot, C., et.al. (2010). "LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood." Hum Mutat 31(7): E1564-73. PubMed ID: 20583302
  • Ramesh, V., Gardner-Medwin, D. (1992). Familial paroxysmal rhabdomyolysis: management of two cases of the non-exertional type. Dev Med Child Neurol 34(1): 73-9. PubMed ID: 1544519
  • Tein, I., et.al. (1990). Recurrent childhood myoglobinuria. Adv Pediatr 37: 77-117. PubMed ID: 2264536
  • Zeharia, A., et.al. (2008). "Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood." Am J Hum Genet 83(4): 489-94. PubMed ID: 18817903

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.

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  • 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

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