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Seipin-Related Disorders via the BSCL2 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
BSCL2 81406 81406,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11113BSCL281406 81406,81479 $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.


Genetic Counselors


  • McKenna Kyriss, PhD

Clinical Features and Genetics

Clinical Features

Seipin-related neurologic disorders include distal hereditary motor neuronopathy type V (HMNV; OMIM 600794) and spastic paraplegia 17 (SPG17, Silver syndrome; OMIM 270685). The distal hereditary motor neuronopathies represent a phenotypic continuum of distal neuropathy with weakness and wasting starting in the distal limbs, predominately the hands. Onset of the BSCL2 related neuronopathies is between the first and seventh decades of life and progression is slow. Motor neuron involvement includes amyotrophy of the peroneal and hand muscles, gait disturbances, and mild to severe spasticity (Wagner and Auer-Grumbach. GeneReviews, 2005). Remarkable variability of phenotypic expression, even within families, has been described (Auer-Grumbach et al. Ann Neurol 57:415-424, 2005). Variants in the seipin gene are also the cause of congenital generalized lipodystrophy (CGL2, Berardinelli-Seip congential lipodystrophy; OMIM 269700), a congenital or early infancy onset disorder characterized by near absence of adipose tissue and insulin resistance (Magré et al. Nature Genetics 28:365-370, 2001). Patients affected with CGL2 exhibit accelerated growth and maturation in early childhood, muscle hypertrophy, hyperpigmented and coarse skin, hirsutism, hepatomegaly, hyperlipidemia, and insulin resistant diabetes mellitus.


Distal hereditary motor neuronopathy type V and Silver syndrome are inherited as autosomal dominant disorders. Missense variants in the gene encoding seipin (BSCL2; OMIM 606158) are the cause of both neuropathies (Windpassinger et al. Nature Genetics 36:271-276, 2004). Variants in the GARS gene are another cause of HMNV (Antonellis et al. Am J Hum Genet 72:1293-1299, 2003). Congenital generalized lipodystrophy type 2 is inherited as an autosomal recessive disorder and almost all reported causative BSCL2 variants for this disorder predict null alleles.

Clinical Sensitivity - Sequencing with CNV PGxome

Among a cohort of 45 congenital generalized lipodystrophy patients Agarwal et al. (J Clin Endocrin Metab 88:4840-4847, 2003) found 11 with BSCL2 variants and 26 with AGPAT2 gene variants. Two BSCL2 variants (p.Asn88Ser and p.Ser90Leu) have been found in a small number of patients with neurological disorders. Analytical sensitivity should be high because all BSCL2 variants reported to date are of the type expected to be detected by DNA sequencing of genomic DNA.

Testing Strategy

This test provides full coverage of all coding exons of the BSCL2 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 and electrophysiological signs consistent with a distal neuropathy with or without spasticity and autosomal dominant inheritance. Individuals with clinical features of a generalized lipodystrophy with congenital or early infancy onset and insulin resistance. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in BSCL2.


Official Gene Symbol OMIM ID
BSCL2 606158
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Agarwal, A. K., et.al. (2003). "Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy." J Clin Endocrinol Metab 88(10): 4840-7. PubMed ID: 14557463
  • Antonellis, A., et.al. (2003). "Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V." Am J Hum Genet 72(5): 1293-9. PubMed ID: 12690580
  • Auer-Grumbach, M., et.al. (2005). "Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation." Ann Neurol 57(3): 415-24. PubMed ID: 15732094
  • Klaus Wagner, Michaela Auer-Grumbach (2005). "BSCL2-Related Neurologic Disorders."
  • Magre, J., et.al. (2001). "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13." Nat Genet 28(4): 365-70. PubMed ID: 11479539
  • Windpassinger, C., et.al. (2004). "Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome." Nat Genet 36(3): 271-6. PubMed ID: 14981520


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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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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