Hermansky-Pudlak Syndrome

The disorder is characterized by oculocutaneous albinism, platelet delta-granule storage pool deficiency leading to bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Patients have nystagmus and easy bruisability. Pulmonary fibrosis is a severe complication in many patients. Granulomatous colitis occurs in 10%-20% of patients. Eight different genes are known to cause HPS when mutated (HPS1 – HPS8). Many patients have ethnic-associated mutations including a northwestern Puerto Rican HPS1 mutation, a central Puerto Rican HPS3 mutation, and an Ashkenazi HPS3 mutation.

Tests Available

Forms and Documents

Test Details

HPS1, HPS3
  • Confirmation of a clinical diagnosis in a patient of appropriate ethnic background
  • Carrier testing in unaffected family members or unaffected members of the general population of the appropriate ethnic background.
  • Prenatal diagnosis
  • PCR & Electrophoresis

Ordering

188
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 270.2 Other disturbances of aromatic amino-acid metabolism, Albinism, Alkaptonuria, Alkaptonuric ochronosis, Disturbances of metabolism of tyrosine and tryptophan, Homogentisic acid defects, Hydroxykynureninuria Hypertyrosinemia, Indicanuria, Kynureninase defects, Oasthouse urine disease, Ochronosis, Tyrosinosis, Tyrosinuria, Waardenburg syndrome
  • 287.1 Qualitative platelet defects, Thrombasthenia (hemorrhagic) (hereditary), Thrombocytasthenia, Thrombocytopathy (dystrophic), Thrombopathy (Bernard-Soulier)
* For price inquiries please email zebras@genedx.com

References

  1. Huizing, M., Hermansky-Pudlak syndrome Type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency, Am J Hum Gen 69:1022-32, 2001
  2. Anikster, Y, et al. Mutation in a novel gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico, Nat. Gen. 28:376-380, 2001
  3. Oh, J., et al., Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles, Nat. Gen., 14;300-306, 1996

Forms and Documents

Test Details

HPS3
  • 1. Confirmation of a clinical diagnosis in a patient of appropriate ethnic background
  • 2. Carrier testing in unaffected family members or unaffected members of the general population of the appropriate ethnic background.
  • 3. Prenatal diagnosis
  • Capillary Sequencing

Ordering

189
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 270.2 Other disturbances of aromatic amino-acid metabolism, Albinism, Alkaptonuria, Alkaptonuric ochronosis, Disturbances of metabolism of tyrosine and tryptophan, Homogentisic acid defects, Hydroxykynureninuria Hypertyrosinemia, Indicanuria, Kynureninase defects, Oasthouse urine disease, Ochronosis, Tyrosinosis, Tyrosinuria, Waardenburg syndrome
  • 287.1 Qualitative platelet defects, Thrombasthenia (hemorrhagic) (hereditary), Thrombocytasthenia, Thrombocytopathy (dystrophic), Thrombopathy (Bernard-Soulier)
* For price inquiries please email zebras@genedx.com

References

  1. Anikster, Y, et al. Mutation in a novel gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico, Nat. Gen. 28:376-380, 2001
  2. Oh, J., et al., Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles, Nat. Gen., 14;300-306, 1996
  3. Huizing, M., Hermansky-Pudlak syndrome Type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency, Am J Hum Gen 69:1022-32, 2001