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Cutis Laxa via the FBLN5 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
FBLN5 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8277FBLN581479 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


  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

FBLN5-related Cutis laxa is characterized by congenital cutis laxa, early childhood-onset pulmonary emphysema, and peripheral pulmonary artery stenosis. Other features include inguinal hernias, pyloric stenosis, aortic valve dysplasia, and a few patients may have supravalvular aortic stenosis. Cardiorespiratory failure caused by complications of pulmonary emphysema is the major cause of early death (Van Maldergem and Loeys 2014).


Pathogenic variants in the FBLN5 gene mainly cause autosomal recessive cutis laxa type IA and autosomal dominant age-related Macular Degeneration/Hereditary Neuropathy with or without age-related macular degeneration. In rare cases, FBLN5 is also related to autosomal dominant cutis laxa. FBLN5 protein encoded by FBLN5 is an extracellular matrix protein and plays a key role in stabilizing elastic fibers in the skin, lung, and vasculature. To date, ~ 20 unique pathogenic FBLN5 pathogenic variants have been reported. They are: missense (86%), nonsense (10%) and one large duplication (Loeys et al. 2002; Markova et al. 2003; Callewaert et al. 2013, Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

Clinical sensitivity is low. For example, in one study FBLN5 pathogenic variants were identified in 1.7% of patients with age-related Macular degeneration (Stone et al. 2004). Mutation detection rate should be high, because the majority of reported FBLN5 pathogenic variants are missense or nonsense pathogenic variants which can be detected by sequence analysis.

Only one large duplication was reported in the FBLN5 gene (Markova D et al. 2003, Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the FBLN5 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 cuties laxa with pulmonary emphysema, peripheral pulmonary artery stenosis; patients with age-related Macular Degeneration/Hereditary Neuropathy with or without age-related macular degeneration and the family members of patients who have FBLN5 pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in FBLN5.


Official Gene Symbol OMIM ID
FBLN5 604580
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Charcot-Marie-Tooth (CMT) - Comprehensive Panel
Charcot-Marie-Tooth (CMT) - Demyelinating Neuropathy Panel


  • Callewaert B. et al. 2013. Human Mutation. 34: 111-21. PubMed ID: 22829427
  • Human Gene Mutation Database (Bio-base).
  • Loeys B. et al. 2002. Human Molecular Genetics. 11: 2113-8. PubMed ID: 12189163
  • Markova D. et al. 2003. American Journal of Human Genetics. 72: 998-1004. PubMed ID: 12618961
  • Stone E.M. et al. 2004. The New England Journal of Medicine. 351: 346-53. PubMed ID: 15269314
  • Van Maldergem and Loeys. 2014. FBLN5-Related Cutis Laxa In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301756


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

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