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Mandibulofacial Dysostosis, Guion-Almeida Type via the EFTUD2 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
EFTUD2 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11281EFTUD281479 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.


Genetic Counselors


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA, OMIM#610536, also called mandibulofacial dysostosis with microcephaly) is a multiple malformation syndrome characterized by progressive microcephaly, choanal atresia, cleft palate, mandibular hypoplasia, microtia, preauricular tags, conductive deafness, congenital heart and/ or thumb anomalies and developmental delay (Wieczorek, D. et al. Am J Med Genet 149A: 837-843, 2009; Lines, M. A. et al. Am J Hum Genet 90(2): 369-377, 2012). Phenotypes of mandibulofacial dysostosis also overlap with other syndromes such as Pierre-Robin, Miller, Treacher Collins, and Nager syndromes, as well as oculoauriculovertebral (OAVS) spectrum disorders such as VATER association, CHARGE, Goldenhar and Feingold syndromes (Lines, M. A. et al., 2012; Gordon, C. T. et al. J Med Genet 49(12): 737-746, 2012; Need, A. C. et al. J Med Genet 49(6): 353-361, 2012).


MFDGA is inherited in an autosomal dominant manner and is caused by mutations in the EFTUD2 gene. EFTUD2 (OMIM#603892, elongation factor Tu GTP binding domain containing 2, also called U5 snRNP-specific protein, 116-KD) coded by EFTUD2, is a small nuclear ribo- nucleoprotein and is a component of the spliceosome complex which plays an important role in pre-mRNA splicing process (Fabrizio, P. et al. EMBO J 16(13): 4092-4106, 1997; Lines, M. A. et al., 2012). To date, 29 causative mutations have been identified in patients with MFDGA. These mutations are: missense (7/29), nonsense (6/29), splicing (4/29), small deletion/insertions (8/29), and large deletion (4/29). The majority of the reported cases have a de novo heterozygous loss of function mutation (Lines, M. A. et al., 2012; Gordon, C. T. et al.,2012; Need, A. C. et al., 2012).

Clinical Sensitivity - Sequencing with CNV PGxome

Based on the types of reported EFTUD2 mutations, Sanger sequencing may detect up to 85% of disease causing mutations in clinically diagnosed MFDGA cases. Large deletion/insertions involving EFTUD2 cause ~15% of cases, which cannot be identified by Sanger sequencing (Lines, M. A. et al. Am J Hum Genet 90(2): 369-377, 2012; Gordon, C. T. et al. J Med Genet 49(12): 737-746, 2012; Need, A. C. et al. J Med Genet 49(6): 353-361, 2012; HGMD).

Testing Strategy

This test provides full coverage of all coding exons of the EFTUD2 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 MFDGA and the family members of patients who have known EFTUD2 mutations.


Official Gene Symbol OMIM ID
EFTUD2 603892
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Mandibulofacial dysostosis, Guion-Almeida type AD 610536


  • Fabrizio, P. et al. (1997). "An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase." EMBO J 16(13): 4092-4106. PubMed ID: 9233818
  • Gordon et al. 2012. PubMed ID: 23188108
  • Human Gene Mutation Database (Bio-base).
  • Lines, M. A. et al., (2012). "Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly." Am J Hum Genet 90(2): 369-377. PubMed ID: 22305528
  • Need et al. 2012. PubMed ID: 22581936
  • Wieczorek D, Gener B, González MJM, Seland S, Fischer S, Hehr U, Kuechler A, Hoefsloot LH, Leeuw N de, Gillessen-Kaesbach G, Lohmann DR. 2009. Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome. American Journal of Medical Genetics Part A 149A: 837-843. PubMed ID: 19334086


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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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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