Albinism, Hermansky-Pudlak Syndrome, and Waardenburg Syndrome Subpanel


Albinism refers to a set of disorders in which pigmentation of the skin, hair, and/or eyes are lighter than expected due to deficiencies of the pigment melanin. These diseases include oculocutanous albinism, Hermansky-Pudlak syndrome and Waardenburg syndrome.

Hermansky-Pudlak syndrome is an autosomal recessive disorder that is characterized by the presence of lighter-colored skin and hair than unaffected family members, as well as reduced vision. Patients also have a susceptibility to prolonged bleeding caused by abnormalities in the platelets, which normally function in the clotting process. A subset of patients may develop Crohn’s disease.

Oculocutanous albinism (OCA) is a group of disorders that affect pigmentation of the eyes, skin, and hair. Distinctive ocular changes include nystagmus, reduced iris pigment with iris translucency, reduced retinal pigmentation, and foveal hypoplasia with reduction in visual acuity. OCA is inherited in an autosomal recessive manner. Additionally, an X-linked form of ocular albinism leading to minor cutaneous manifestations in affected males also exists.

Waardenburg syndrome is an autosomal dominant auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with Waardenburg syndrome type 2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia.

The Albinism, Hermansky-Pudlak Syndrome and Waardenburg Syndrome Subpanel contains 18 genes. Our customizable targeted next-generation sequencing (NGS) panel uses Agilent SureSelect™ target enrichment and Illumina HiSeq sequencing. NGS technology is ideal for diagnostic testing of these disorders due to the extreme locus heterogeneity and phenotype overlap of the genes involved. The sensitivity of this panel is estimated at 99% for single-base substitutions.

If indicated, Sanger sequencing may be performed in both directions using BigDye Terminator chemistry with the ABI 3730 DNA analyzer with target specific amplicons. It may also be used to supplement specific guaranteed target regions that fail NGS sequencing or as a confirmatory method for NGS positive results. NGS technology may not detect all small insertions or deletions. Additionally, it is not diagnostic for large duplications or deletions, repeat expansions, and structural genomic variation. Therefore, oligonucleotide array comparative genomic hybridization (aCGH) is available for this test for deletion/duplication analysis. The customized oligonucleotide microarray is a highly-targeted, exon-focused array capable of detecting microdeletions and microduplications at a much higher resolution than traditional aCGH methods. The sensitivity of the aCGH assay is estimated to be greater than 99% for medically-relevant microdeletions and microduplications in the exonic regions of 18 genes.

Specimen Requirements


Please provide one of the following specimen types:

  • Two confluent T-25 flasks of cultured cells from amniotic fluid or chorionic villi
  • >4 mg of direct chorionic villi tissue
  • 15 mL of direct amniotic fluid


5-10 mL of blood in an EDTA tube (lavender top) is required from each biological parent. Parental blood samples may be used for maternal cell contamination studies or confirmation studies.

Whole blood

Newborn or child

  • One 2 mL EDTA tube (lavender top) or one 2 mL ACD-A or ACD-B tube (yellow top) from the patient
  • One 5-10 mL EDTA tube (lavender top) or one 5-10 mL ACD-A or ACD-B tube (yellow top) is also recommended from each biological parent


  • Two 5-10 mL EDTA tubes (lavender top) or two 5-10 mL ACD-A or ACD-B tubes (yellow top) from the patient
  • One 5-10 mL EDTA tube (lavender top) or one 5-10 mL ACD-A or ACD-B tube (yellow top) is also recommended from each biological parent


Extracted DNA

  • A minimum of 10 μL DNA (50-250 ng/μL) is required for testing. 20 μL DNA (50-350 ng/μL) is recommended



  • Saliva specimens are accepted upon request. Please contact our laboratory to obtain saliva kits
  • Saliva samples should be collected in Oragene DNA (OG-500) kits by DNA Genotek

Ordering Information


  • Tubes of blood, cultured cells, direct chorionic villus sampling, and direct amniotic fluid should be stored and shipped at room temperature or refrigerated
  • Do not freeze specimens
  • Please ship specimens same day or overnight to: 62 Southfield Ave, Stamford, CT, 06902


Turnaround Time

  • Prenatal: 7-10 business days from receipt of specimen
  • Pediatric or adult: 3-4 weeks from receipt of specimen



Hearing and Vision Loss Test Requisition
Genetic Testing for Hearing and Vision Loss