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Miller Syndrome via the DHODH 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
DHODH 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11229DHODH81479 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

Miller syndrome (OMIM# 263750, also called postaxial acrofacial dystosis, Genee-Wiedemann syndrome, and Wildervanck-Smith syndrome) is characterized by dysmorphic craniofacial features with postaxial limb deformities (Donnai, D. et al. J Med Genet 24(7):422-425, 1987). The most common features include severe micrognathia, cleft lip and/or palate, absence of fifth fingers and toes, syndactyly, abnormal bones in the forearms and lower legs, coloboma of the eyelids, and supernumerary nipples. Other dysmorphic features include downward slanting palpebral fissures, malar hypoplasia, malformed ears and a broad nasal ridge. The less common features include abnormalities of the heart, kidneys, genitalia, or gastrointestinal tract. Patients may show delayed speech development due to hearing impairment, but usually their intelligence is normal. Other syndromes such as Pierre-Robin, Treacher-Collins, and Franschetti-Klein share facial features with Miller syndrome.


Miller syndrome is inherited in an autosomal recessive manner and is caused by mutations in the DHODH gene. DHODH (OMIM#126064, dihydroorotate dehydrogenase) encodes a mitochondrial protein located on the outer surface of the inner mitochondrial membrane which converts dihydroorotate to orotic acid in pyrimidine production. To date, 16 unique mutations have been documented in HGMD (Human Gene Mutation Database): missense (14/16); nonsense (1/16), and a small deletion (1/16). No large deletions/insertions have been reported (Ng et al. Nat Genet 42(1): 30-35, 2010; Rainger et al. Hum Mol Genet 21(18):3969-3983, 2012).

Clinical Sensitivity - Sequencing with CNV PGxome

Analytical sensitivity should be high because almost all of the documented DHODH mutations are point mutations, which are expected to be detected by direct sequencing of genomic DNA. Rainger et al (2012) identified compound heterozygous mutations in three out of eight unrelated families with Miller syndrome (Rainger et al. Hum Mol Genet 21(18):3969-83, 2012).

Testing Strategy

This test provides full coverage of all coding exons of the DHODH 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 Miller syndrome and the family members of patients who have known DHODH mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DHODH.


Official Gene Symbol OMIM ID
DHODH 126064
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Miller Syndrome AR 263750


  • Donnai et al. 1987. PubMed ID: 3612717
  • Human Gene Mutation Database (Bio-base).
  • Ng et al. (2010). “Exome sequencing identifies the cause of a mendelian disorder.” Nat Genet 42(1): 30-35. PubMed ID: 19915526
  • Rainger  et al. (2012). “Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.” Hum Mol Genet 21(18):3969-3983. PubMed ID: 22692683


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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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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