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Primordial Dwarfism via the LARP7 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
LARP7 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9877LARP781479 81479,81479 $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.

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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Primordial dwarfism (PD) is characterized by severe intrauterine and postnatal growth retardation that includes Seckel Syndrome, Silver-Russell Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types I/III, II and Meier-Gorlin Syndrome (Khetarpal et al. 2016). LARP7-related Primordial Dwarfism is called Alazami Syndrome. In addition to severe intrauterine and postnatal growth retardation, patients with Alazami Syndrome may also present with intellectual disability. Other features include abnormal skeletal and skin defects, such as scoliosis, thickened skin, as well as involuntary movements of the upper limbs (Alazami et al. 2012; Ling et al. 2016).

Genetics

LARP7-related primordial dwarfism is an autosomal recessive disorder. LARP7 protein is a key component of 7SK small nuclear ribonucleoprotein (snRNP) complex and plays a key role during embryonic development (Najmabadi H. et al. 2011; Alazami et al. 2012; Ling et al. 2016). To date, only a few truncating pathogenic variants have been reported, either in the compound heterozygous state or in the homozygous state (Alazami et al. 2012; Ling et al., 2016, Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

The mutation detection rate by sequencing should be high, because the four known unique pathogenic variants are nonsense, small duplication, and small deletion. However, due to limited publications, clinical sensitivity is not yet known.

Testing Strategy

This test provides full coverage of all coding exons of the LARP7 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

Candidates for this test are patients with symptoms consistent with autosomal recessive primordial dwarfism, particularly patients with Alazami Syndrome and the family members of patients who have known LARP7 pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LARP7.

Gene

Official Gene Symbol OMIM ID
LARP7 612026
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Alazami Syndrome AR 615071

Citations

  • Alazami Anas M. et al. 2012. Human Mutation. 33: 1429-1434. PubMed ID: 22865833
  • Human Gene Mutation Database (HGMD).
  • Khetarpal P. et al. 2016. Molecular Genetics and Genomics : 291:115. PubMed ID: 26323792
  • Ling T.T., Sorrentino S. 2016. American Journal of Medical Genetics. Part A. 170: 217-9. PubMed ID: 26374271
  • Najmabadi H. et al. 2011. Nature. 478: 57-63. PubMed ID: 21937992

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

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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ORDER OPTIONS

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View Ordering Instructions

1) Select Test Method (Platform)


1) Select Test Type


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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