Hermansky-Pudlak Syndrome and Pulmonary Fibrosis Panel


Disorder Hermansky-Pudlak syndrome
Pulmonary Fibrosis
Gene Names
C10orf11 (OCA7) HPS6 TYR (OCA1A)
Clinical info

This panel consists of 25 genes related the various types of Hermansky-Pudlak syndrome and pulmonary fibrosis.  Primary features include hypopigmentation of the hair, skin, and eyes, nystagmus, and associated visual impairment.  In addition to the pigmentation findings, individuals with Hermanksy-Pudlak may also have prolonged bleeding times and easy bruising, kidney failure, and bowel disorders. Pulmonary fibrosis caused by scarring of lung tissue may also be present, and symptoms include shortness of breath and a dry cough leading to death from respiratory failure within a few years without treatment. 


Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis. Please note that this panel was developed for the detection of germline, not somatic, mutations.


The current design of this panel covers the coding region for all 18 genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3' untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts.

We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.

Associated Tests

Effective January 1, 2017, all NGS panels are performed on an exome backbone with the potential for reflex to whole exome sequencing at a reduced cost. Please contact the laboratory to discuss the requirements for exome sequencing.

Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen.  Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 8-10 weeks
Prenatal testing

If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

CPT Codes 81479
Cost $3,000

Insurance billing is available for this test. The Billing Form is required along with copies of the authorization or letter of agreement from the insurance company.
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

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Contact Information

Lori Bassett, MS, CGC
Office (864)388-1061
Fax (864) 388-1062
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