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Barth Syndrome via the TAFAZZIN/TAZ 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
TAFAZZIN 81406 81406,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8525TAFAZZIN81406 81406,81479 $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. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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


  • Chun-An Chen, PhD

Clinical Features and Genetics

Clinical Features

Barth syndrome (BTHS, OMIM 302060) is a rare X-linked disorder of lipid metabolism. Symptoms typically present within the first year of life. Boys with BTHS generally present with skeletal myopathy and abnormal mitochondria along with either dilated cardiomyopathy (DCM, OMIM 115200), left ventricular noncompaction (LVNC, OMIM 300183), or endocardial fibroelastosis (EFE, OMIM 305300) (Barth et al. Neurol Sci 62:327-355, 1983). Additional features include growth delay and elevated urinary 3-methylglutaconic acid and 2-ethylhydracrylic acid. Patients with BTHS are also at risk for bacterial infection due to neutropenia.


Barth syndrome (BTHS) is inherited in an X-linked recessive manner and primarily affects boys. Carrier females are asymptomatic. BTHS results from variants in TAFFAZIN/TAZ, which encodes for the protein tafazzin. Tafazzin is important for the synthesis of cardiolipins and mitochondrial function. Variants in TAFFAZIN can result in a wide-spectrum of cardiomyopathies, including DCM and LVNC, without other symptoms associated with Barth syndrome. (Bione et al. Nat Genet 12:385-389, 1996; D’Adamo et al. J Hum Genet 61:862-867, 1997; Bleyl et al. Am J Med Genet 72:257-265, 1997; Ichida et al. Circulation 103:1256-1263, 2001). Over 100 variants in TAFFAZIN have been identified throughout the entire coding region. The majority of causative variants are missense, nonsense, and splice site variants. Small insertions and deletions have also been found in patients with BTHS, DCM, or LVNC.

Clinical Sensitivity - Sequencing with CNV PGxome

The majority of Barth syndrome patients have variants in TAFFAZIN (Johnston et al. Am J Hum Genet 61:1053-1058, 1997; Spencer et al. Pediatrics 118:e337-46, 2006).

Testing Strategy

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

Patients with symptoms suggestive of Barth syndrome. TAFFAZIN testing should be considered when males present with cardiomyopathy (DCM or LVNC) along with neutropenia or skeletal muscle weakness.


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


Name Inheritance OMIM ID
3-Methylglutaconic Aciduria Type 2 XL 302060

Related Tests

Comprehensive Cardiology Panel
Left Ventricular Noncompaction (LVNC) Panel
Severe Congenital Neutropenia and Neutrophilia via the CSF3R Gene


  • Barth, P. G., et.al. (1983). "An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes." J Neurol Sci 62(1-3): 327-55. PubMed ID: 6142097
  • Bione S, D’Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. 1996. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat. Genet. 12: 385–389. PubMed ID: 8630491
  • Bleyl, S. B., et.al. (1997). "Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals." Am J Med Genet 72(3): 257-65. PubMed ID: 9332651
  • D'Adamo, P., et.al. (1997). "The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies." Am J Hum Genet 61(4): 862-7. PubMed ID: 9382096
  • Ichida, F., et.al. (2001). "Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome." Circulation 103(9): 1256-63. PubMed ID: 11238270
  • Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R. (1997). Mutation characterization and genotype-phenotype correlation in Barth syndrome. Am J Hum Genet 61(5):1053-8. PubMed ID: 9345098
  • Spencer CT, Bryant RM, Day J, Gonzalez IL, Colan SD, Thompson WR, Berthy J, Redfearn SP, Byrne BJ. (2006). Cardiac and clinical phenotype in Barth syndrome. Pediatrics 118(2):e337-46. PubMed ID: 16847078


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