Department of Clinical Genetics

Personnel

Director: Birgitte Diness, PhD, MD, Lab Director
Email: kennedy-medgenlab.rigshospitalet@regionh.dk
Johanne Hahnemann, PhD, MD, Laboratory Contact
Phone: +45 43260100
Fax: +45 43431130
Email: kennedy-medgenlab.rigshospitalet@regionh.dk
Karen Gronskov, PhD, Staff
Phone: +45 43260100
Fax: +45 43431130
Email: kennedy-medgenlab.rigshospitalet@regionh.dk
Lisbeth Moller, PhD, Staff
Phone: +45 43260100
Fax: +45 43431130
Email: kennedy-medgenlab.rigshospitalet@regionh.dk
Nanna Rendtorff, PhD, Staff
Phone: +45 43260100
Fax: +45 43261130
Email: kennedy-medgenlab.rigshospitalet@regionh.dk
Lisbeth Tranebjærg, PhD, MD, Medical Doctor
Phone: +45 43260100
Fax: +45 43261130
Email: kennedy-medgenlab.rigshospitalet@regionh.dk
Zeynep Tümer, PhD, MD, Laboratory Contact
Phone: 4543260155
Email: kennedy-medgenlab.rigshospitalet@regionh.dk

Conditions and tests

65 conditions/phenotypes with 35 tests
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11p partial monosomy syndrome1 test
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
Aniridia 12 tests
Anophthalmia-microphthalmia syndrome1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
Anterior segment anomalies with or without cataract1 test
Anterior segment dysgenesis 12 tests
Autosomal dominant optic atrophy classic form1 test
Autosomal recessive DOPA responsive dystonia1 test
Axenfeld-Rieger syndrome1 test
Axenfeld-Rieger syndrome type 13 tests
Axenfeld-Rieger syndrome type 33 tests
Beckwith-Wiedemann syndrome1 test
Brain small vessel disease 1 with or without ocular anomalies2 tests
Branchiooculofacial syndrome1 test
Cataract 231 test
Cornea plana 21 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Dihydropteridine reductase deficiency1 test
Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
Early-onset generalized limb-onset dystonia1 test
Focal dermal hypoplasia2 tests
Focal segmental glomerulosclerosis 71 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
Glaucoma 1, open angle, A1 test
Glaucoma 3A1 test
GTP cyclohydrolase I deficiency1 test
Intellectual disability, X-linked, with or without seizures, arx-related1 test
Irido-corneo-trabecular dysgenesis2 tests
Leber congenital amaurosis 21 test
Linear skin defects with multiple congenital anomalies 11 test
Menkes kinky-hair syndrome1 test
Nance-Horan syndrome1 test
Oculocutaneous albinism1 test
Oculocutaneous albinism type 12 tests
Oculocutaneous albinism type 1B1 test
Oculocutaneous albinism type 32 tests
Oculocutaneous albinism type 42 tests
Oculocutaneous albinism type 51 test
Oculocutaneous albinism type 61 test
Oculocutaneous albinism type 71 test
Oculotrichoanal syndrome1 test
Optic atrophy1 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Pallister-Hall syndrome1 test
Peters plus syndrome2 tests
Phenylketonuria1 test
Pierson syndrome1 test
Primary Open Angle Glaucoma (Adult Onset)1 test
Russell-Silver syndrome1 test
Silver-Russell syndrome 12 tests
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Syndromic microphthalmia1 test
Syndromic microphthalmia type 51 test
Torsion dystonia 61 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tyrosinase-negative oculocutaneous albinism1 test
Tyrosinase-positive oculocutaneous albinism2 tests
West syndrome1 test
Wilson disease1 test
X-linked lissencephaly with abnormal genitalia1 test

List of services

This lab has no services.

List of certifications/licenses

Certifications

DANAK, Number: 1012, Expiration date: 2023-08-31

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.