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

Ordering

188
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots

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

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

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

  • 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

Ordering

189
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots

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

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

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

Forms and Documents

Test Details

AP3B1, AP3D1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6
  • Confirmation of a clinical diagnosis
  • Carrier testing for family members of the affected patient
  • Preparation for prenatal testing in future pregnancies

Ordering

TB48
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.