List of diseases covered by Fatty Acid Oxidation Disorder NGS panel

List of diseases covered by
Fatty Acid Oxidation Disorder NGS panel

Gene Condition
ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACADVL VLCAD deficiency
CPT1A CPT deficiency, hepatic, type IA
CPT2 CPT II deficiency, infantile; CPT II deficiency, lethal neonatal;
CPT II deficiency, myopathic, stress-induced
ETFA Glutaric acidemia IIA
ETFB Glutaric acidemia IIB
ETFDH Glutaric acidemia IIC
GLUD1 Hyperinsulinism-hyperammonemia syndrome
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA Fatty liver, acute, of pregnancy; Trifunctional protein deficiency
HADHB Trifunctional protein deficiency
HMGCL HMG-CoA lyase deficiency
HMGCS2 HMG-CoA synthase-2 deficiency
HSD17B10 HSD10 mitochondrial disease
LPIN1 Myoglobinuria, acute recurrent, autosomal recessive
PPARG Carotid intimal medial thickness 1;
Lipodystrophy, familial partial, type 3; Obesity, severe
SLC22A5 Carnitine deficiency, systemic primary
SLC25A20 Carnitine-acylcarnitine translocase deficiency
TAZ Barth syndrome

Fatty Acid Oxidation Disorder NGS panel

Fatty Acid Oxidation Disorder
NGS panel

Genes: ACAD9, ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, PPARG, SLC22A5, SLC25A20, TAZ

List of diseases covered by the panel


Price / TAT: 1070 EUR / 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 of the SLC22A5 gene

Genes: SLC22A5

Lab method: MLPA

Price / TAT: 310 EUR / 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