Disease Panels

Find the genetic cause behind the disease

Our Disease panels are developed to determine the underlying genetic cause when clinical features point towards a group of disorders.

You can choose to investigate any number of genes, from only a handful up to hundreds of disease-related genes.

Cardiology

Congenital heart disease
Congenital myopathy
Sudden Infant Death Syndrome
Arrhythmia
Cardiomyopathy
Noonan (-like) syndromes

Dysmorfology

Cutis laxa
Ichthyosis and related disorders of cornification
Arthrogryposis
Brain malformations
Cerebellar hypoplasia
Connective tissue disorders
Craniofacial anomalies
Craniosynostosis
Ehlers-Danlos (like) syndromes
Growth hormone deficiency
Macrocephaly
Microcephaly
Microtia
Osteogenesis imperfecta
Osteopetrosis
Short stature
Skeletal dysplasia

Ear-Nose-Throat disease

Hearing loss
Joubert syndrome related disorders
Leber congenital amaurosis
Panel of teeth

Eye disease

Bardet-Biedl syndrome
Cataract
Eye disorders
Glaucoma
Microphthalmia

Hematology and Immunology

Fanconi anemia
Thrombocytopenia and jaundice
Periodic fever syndromes
Primary immunodeficiency

Metabolism

Cholestasis
Ceroid lipofuscinosis
Glycogen storage diseases
Glycosylation disorders
Lactic acidosis/Pyruvate metabolism
Lysosomal storage disorders
Metabolic disorders
Mitochondrial genes
Mucopolysaccharidosis
Obesity
Zellweger syndrome

Nephrology and Ciliopathy

Ciliopathies
Monogenic forms of diabetes
Meckel syndrome
Nephrotic syndrome
Renal disorders

Neurology

Autism spectrum disorders
Cerebral palsy
Charcot-Marie-Tooth disease
Epilepsy and seizures
Intellectual disability
Leukodystrophy
Leukoencephalopathy
Neurodegeneration
Neurological disorders
Neuropathies
Walker-Warburg syndrome

Neurology - Movement

Ataxia
Congenital muscular dystrophy
Dystonia
Neuromuscular disorders
Parkinson
Spastic paraplegia

Oncology

Breast cancer
Colorectal cancer
Familial Atypical Mulitple Mole Melanoma syndrome
Hereditary cancer
Paraganglioma and Pheochromocytoma

Turn-around time

Data (FastQ-file) 7-8 weeks
+ Analysis (VCF-file) 7-8 weeks
+ Diagnosis (Full report)  10-12 weeks
Priority 12-14 days

The turn-around time is calculated from the day of arrival until the day that the final report leaves the laboratory. In case of emergency, alternative deadlines can be discussed. Before sending in your samples, please contact us to receive sample IDs.

DNA

Collect 500-1000 ng DNA in TE in safe-lock tubes or 96-wells plates
TE: 10 mM Tris-Cl pH 8.0, 1 mM EDTA
Concentration: 20 – 50 ng/μl
Shipment: on ice or ice packs
Samples from outside the Netherlands should be sent by express courier.

Carefully label the tubes with patient name and GenomeScan ID code plus
date of birth of the patient.
For 96-wells plate, provide a sheet with the sample layout

For neonates
Collect 500 ng DNA in TE
TE: 10 mM Tris-Cl pH 8.0, 1 mM EDTA
Concentration 20 –  50 ng/μl

Blood
Two tubes EDTA blood of 7-10 ml each
Label each tube with patient name and GenomeScan ID code plus
date of birth of the patient.

For neonates
2 tubes of 2,5 ml EDTA blood

For urgent diagnostic requests we offer the ExomeScan Priority. The total turn-around time – from genetic test to diagnosis – in only 12 to 14 days!

When ordering the Priority service, we provide full comprehensive reporting using the same algorithms as our standard workflow. You will receive the same data-quality, analysis and interpretation, only faster.

The total time required for ExomeScan Priority testing is shortened due to tight planning and prioritization of your samples. In order to work as fast as possible, please inform us as soon as possible.

Whole Exome Sequencing, for urgent diagnosis
We only provide the Clinical ExomeScan (Whole exome sequencing) as a priority service. When time is of the essence, it is important to receive as much information as possible.

Secondary or incidental findings
We report on the clinically actionable mutations as recommended by the ACMG, if the patient has opted-in for analysis and reporting of secondary findings. If samples of parents are also included because of trio-sequencing, they can also select to opt-in for analysis and reporting of secondary findings. This report will follow the normal timelines.