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Sidst opdateret: 16/11 2017
Albinism
Analysis

Method

Indicative turnaround time

Material
and
delivery

Mutation screening – gene panels

Next Generation
Sequencing (NGS)

Albinism gene panel 1:
The genes most frequently associated with albinism (genes listed below)

Albinism gene panel 2:
Genes associated with conditions with related clinical features (genes listed below)

 

3 - 4 months

6 ml EDTA blood (small children 1-3 ml)

or extracted genomic DNA


Sent by courier or ordinary mail to Medical Genetics Laboratory, Kennedy Center, Gl. Landevej 7, DK-2600 Glostrup, Denmark

Mutation screening – single gene(s)*
(TYR, OCA2, TYRP1, SLC45A2, C10Orf11)

Sanger sequencing and
MLPA

2 - 3 months

- do -

Carrier analysis / analysis for specified mutation

Sanger sequencing or
MLPA

1 - 2 months

- do -

Prenatal diagnosis

Only after contact to the Laboratory

Contact: mailto:RH-Kennedy-medgenlab@regionh.dk

* Accredited by DANAK (The Danish Accreditation Fund) DS/EN ISO 15189:2013

Albinism gene panel 1

Disorder

OMIM no.

Gene

OMIM no.

Inheritance

Oculocutaneous albinism type 1 (OCA1)

OMIM 203100

TYR

OMIM 606933

Autosomal recessive

Oculocutaneous albinism type 2 (OCA2)

OMIM 203200

OCA2

OMIM 611409

Autosomal recessive

Oculocutaneous albinism type 3 (OCA3)

OMIM 203290

TYRP1

OMIM 115501

Autosomal recessive

Oculocutaneous albinism type 4 (OCA4)

OMIM 606574

SLC45A2

OMIM 606202

Autosomal recessive

Oculocutan albinisme type 7 (OCA7)

OMIM 615157

C10orf11

OMIM 614537

Autosomal recessive

Ocular albinism (OA1)

 

OMIM 300500

GPR143

OMIM 300808

X-linked

Albinism gene panel 2

Disorder

OMIM no.

Gene

OMIM no.

Inheritance

Aland Island eye disease

Cone-rod dystropy, X-linked, 3

Night blindness, congenital stationary (incomplete), 2A, X-linked

OMIM 300600

 

OMIM 300476

 

OMIM 300071

CACNA1F

OMIM 300110

X-linked

Griscelli syndrome type 3

OMIM 609227

MLPH

OMIM 606526

Autosomal recessive

Griscelli syndrome type 1

OMIM 214450

MYO5A

OMIM 160777

Autosomal recessive

Hermansky-Pudlak syndrome 1

OMIM 203300

HPS1

OMIM 604982

Autosomal recessive

Hermansky-Pudlak syndrome 3

OMIM 614072

HPS3

OMIM 606118

Autosomal recessive

Hermansky-Pudlak syndrome 4

OMIM 614073

HPS4

OMIM 606682

Autosomal recessive

Hermansky-Pudlak syndrome 5

OMIM 614074

HPS5

OMIM 607521

Autosomal recessive

Hermansky-Pudlak syndrome 6

OMIM 614075

HPS6

OMIM 607522

Autosomal recessive

Hermansky-Pudlak syndrome 8

OMIM 614077

BLOC1S3

OMIM 609762

Autosomal recessive

Hermansky-Pudlak syndrome 9

OMIM 614171

BLOC1S6

OMIM 604310

Autosomal recessive

Night blindness, congenital stationary (complete), 1A, X-linked

OMIM 310500

NYX

OMIM 300278

X-linked

Tietz albinism-deafness syndrome

Waardenburg syndrome, type 2A

Waardenburg syndrome/ocular albinism, digenic

OMIM 103500

 

OMIM 193510

 

OMIM 103470

MITF

OMIM 156845

Autosomal recessive