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Ulnar-Mammary Syndrome via the TBX3 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
TBX3 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15201TBX381479 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


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Ulnar-mammary syndrome (OMIM# 181450, also called Pallister ulnar-mammary syndrome or Schinzel syndrome) is characterized by ulnar ray defects, genital abnormalities, mammary and apocrine gland hypoplasia. Male patients can have delayed puberty, cryptorchidism, delayed growth and skeletal maturation. Other clinical features include pyloric stenosis, congenital laryngeal stenosis, kidney malformations, inguinal hernias, and hypodontia (Schinzel, A. J Med Genet 24(12): 778-781, 1987).


Ulnar-mammary syndrome is inherited in an autosomal dominant manner and is caused by mutations in the TBX3 gene. The TBX3 protein coded by the TBX3 gene, a transcriptional regulator in BMP and SHH signaling pathways and a member of the T-box DNA-binding domain family, plays an essential role in patterning the posterior digits and in the development of the hypothalamo-pituitary axis (Bamshad, M. et al. Nature Genet 16(3): 311-315, 1997; King M. et al. Am J Med Genet A 140(13):1407-1413, 2006). To date, 17 unique mutations have been documented in HGMD (Human Gene Mutation Database): missense (2/17); nonsense (3/17), splicing (2/17), small deletion (2/17), small insertion/duplication (8/17) and large deletion (1/17) (Bamshad M. et al. Am J Hum Genet 64(6): 1550-1562, 1999; Klopocki, E et al. Eur J Hum Genet 14(12):1274-1279, 2006; Linden, H. et al. Am J Med Genet 149A(12): 2809-2812, 2009).

Clinical Sensitivity - Sequencing with CNV PG-Select

Analytical sensitivity may be high, because 16 out of 17 reported mutations are point mutations or small insertion/deletions which are expected to be detected by sequencing (Bamshad, M. et al. Am J Hum Genet 64(6): 1550-1562, 1999; Human Gene Mutation Database). A large deletion was reported in one case (Klopocki, E et al. Eur J Hum Genet 14(12):1274-1279, 2006).

Testing Strategy

This test is performed using Next-Generation sequencing with additional Sanger sequencing as necessary.

This test provides full coverage of all coding exons of the TBX3 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 ulnar-mammary syndrome and the family members of patients who have known TBX3 mutations.


Official Gene Symbol OMIM ID
TBX3 601621
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Ulnar-Mammary Syndrome AD 181450


  • Bamshad M. et al. (1997). “Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.” Nature Genet 16(3): 311-315. PubMed ID: 9207801
  • Bamshad, M et al. (1999). "The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome." Am J Hum Genet 64(6):1550-1562. PubMed ID: 10330342
  • Human Gene Mutation Database (Bio-base).
  • King, M. et al. (2006). "T-genes and limb bud development." Am J Med Genet A 140(13):1407-1413. PubMed ID: 16688725
  • Klopocki, E et al. (2006). “Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.” Eur J Hum Genet 14(12):1274-1279. PubMed ID: 16896345
  • Linden, H. et al. (2009 ). “Ulnar mammary syndrome and TBX3: expanding the phenotype.” Am J Med Genet 149A(12): 2809-2812. PubMed ID: 19938096
  • Schinzel, A. (1987). “Ulnar-mammary syndrome.” J Med Genet 24(12): 778-781. PubMed ID: 3430557


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

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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