List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel

List of diseases covered by
Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
NGS panel

Gene Condition
AP3B1 Hermansky-Pudlak syndrome 2
BLOC1S3 Hermansky-Pudlak syndrome 8
BLOC1S6 Hermansky-pudlak syndrome 9
DTNBP1 Hermansky-Pudlak syndrome 7
GPR143 Nystagmus 6, congenital, X-linked;
Ocular albinism, type I, Nettleship-Falls type
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
LRMDA Albinism, oculocutaneous, type VII
LYST Chediak-Higashi syndrome
OCA2 Albinism, oculocutaneous, type II
SLC24A5 Albinism, oculocutaneous, type VI
SLC45A2 Albinism, oculocutaneous, type IV
TYR Albinism, oculocutaneous, type IA;
Albinism, oculocutaneous, type IB;
Waardenburg syndrome/albinism, digenic
TYRP1 Albinism, oculocutaneous, type III

Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome

Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
NGS panel

Genes
(full
coding region):
AP3B1, BLOC1S3, BLOC1S6, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, OCA2, SLC24A5, SLC45A2, TYR, TYRP1

List of diseases covered by the panel


Lab method: NGS panel

NGS panel with CNV


TAT: 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: GPR143, OCA2, TYR

Lab method: MLPA

TAT: 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Carrier testing for at-risk family members
  3. Genetic counseling
  4. Prenatal diagnosis for known familial mutation

List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel

List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel

Gene Condition
AP3B1 Hermansky-Pudlak syndrome 2
BLOC1S3 Hermansky-Pudlak syndrome 8
BLOC1S6 Hermansky-pudlak syndrome 9
DTNBP1 Hermansky-Pudlak syndrome 7
GPR143 Nystagmus 6, congenital, X-linked;
Ocular albinism, type I, Nettleship-Falls type
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
LRMDA Albinism, oculocutaneous, type VII
LYST Chediak-Higashi syndrome
OCA2 Albinism, oculocutaneous, type II
SLC24A5 Albinism, oculocutaneous, type VI
SLC45A2 Albinism, oculocutaneous, type IV
TYR Albinism, oculocutaneous, type IA;
Albinism, oculocutaneous, type IB;
Waardenburg syndrome/albinism, digenic
TYRP1 Albinism, oculocutaneous, type III