Test catalogue

Genetic tests available for sample collection at our units. Search by test name or gene, and filter by specialty.

This list is indicative: the availability and turnaround time of each test should be confirmed with the unit before collection. Results should always be interpreted by your doctor.

Results

414 tests · Page 6 of 14

• Galactose epimerase deficiency (GALE gene, NGS)

  Code 10577 · Next-generation sequencing (NGS)

  Genes: GALE

  Turnaround time: 33 working days

• Galactosemia (GALT gene, NGS)

  Code 10929 · Next-generation sequencing (NGS)

  Genes: GALT

  Turnaround time: 33 working days

• Galactosialidosis (CTSA gene, NGS)

  Code 10930 · Next-generation sequencing (NGS)

  Genes: CTSA

  Turnaround time: 33 working days

• GAPO syndrome (ANTXR1 gene, NGS)

  Code 10932 · Next-generation sequencing (NGS)

  Genes: ANTXR1

  Turnaround time: 33 working days

• Gaucher disease (GBA gene, NGS)

  Code 10933 · Next-generation sequencing (NGS)

  Genes: GBA

  Turnaround time: 33 working days

• Genetic testing for iron overload disorders

  Code 3340 · Next-generation sequencing (NGS)

  Genes: ATN1, ATP13A2, ATP7B, C19orf12, COASY, CP, DCAF17, FA2H and 12 more

  Turnaround time: 33 working days

• Genetic testing for McArdle disease, sequencing (PYGM gene)

  Code 3184 · Sanger sequencing

  Genes: PYGM

  Turnaround time: 33 working days

• Genetic testing for metachromatic leukodystrophy

  Code 3083 · Sequencing

  Genes: PSAP

  Turnaround time: 31 working days

• Gilbert syndrome (UGT1A1 gene, NGS)

  Code 10934 · Next-generation sequencing (NGS)

  Genes: UGT1A1

  Turnaround time: 33 working days

• Glucose-6-phosphate dehydrogenase deficiency (G6PD gene, NGS)

  Code 10578 · Next-generation sequencing (NGS)

  Genes: G6PD

  Turnaround time: 33 working days

• Glucose-6-phosphate dehydrogenase deficiency (G6PD gene, sequencing)

  Code 3349 · Sanger sequencing

  Genes: G6PD

  Turnaround time: 33 working days

• Glucose transporter type 1 deficiency (SLC2A1 gene, NGS)

  Code 10556 · Next-generation sequencing (NGS)

  Genes: SLC2A1

  Turnaround time: 33 working days

• Glutaric acidemia (4-gene panel, NGS)

  Code 10100 · Next-generation sequencing (NGS)

  Genes: GCDH, ETFA, ETFB, ETFDH

  Turnaround time: 33 working days

• Glutaric acidemia type 1, GCDH (GCDH gene, NGS)

  Code 10099 · Next-generation sequencing (NGS)

  Genes: GCDH

  Turnaround time: 33 working days

• Glutaric acidemia type 3 (ETFDH gene, NGS)

  Code 10102 · Next-generation sequencing (NGS)

  Genes: ETFDH

  Turnaround time: 33 working days

• Glutaric acidemia type 4 (ETFA gene, NGS)

  Code 10103 · Next-generation sequencing (NGS)

  Genes: ETFA

  Turnaround time: 33 working days

• Glutaric acidemia type 5 (ETFB gene, NGS)

  Code 10104 · Next-generation sequencing (NGS)

  Genes: ETFB

  Turnaround time: 33 working days

• Glutathione synthetase deficiency (GSS gene, NGS)

  Code 10579 · Next-generation sequencing (NGS)

  Genes: GSS

  Turnaround time: 33 working days

• Glycine encephalopathy / nonketotic hyperglycinemia (10-gene panel, NGS)

  Code 10844 · Next-generation sequencing (NGS)

  Genes: AMT, BOLA3, DLD, GCSH, GLDC, GLRX5, LIAS, LIPT1 and 2 more

  Turnaround time: 33 working days

• Glycine encephalopathy / nonketotic hyperglycinemia (AMT gene, NGS)

  Code 10846 · Next-generation sequencing (NGS)

  Genes: AMT

  Turnaround time: 33 working days

• Glycine encephalopathy / nonketotic hyperglycinemia (GCSH gene, NGS)

  Code 10847 · Next-generation sequencing (NGS)

  Genes: GCSH

  Turnaround time: 33 working days

• Glycine encephalopathy / nonketotic hyperglycinemia (GLDC gene, NGS)

  Code 10845 · Next-generation sequencing (NGS)

  Genes: GLDC

  Turnaround time: 33 working days

• Glycogen metabolism disorders (34-gene panel, NGS)

  Code 10174 · Next-generation sequencing (NGS)

  Genes: AGL, ALDOA, ENO3, EPM2A, FBP1, FBP2, G6PC, GAA and 26 more

  Turnaround time: 33 working days

• Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (PHKB gene, NGS)

  Code 10938 · Next-generation sequencing (NGS)

  Genes: PHKB

  Turnaround time: 33 working days

• Glycogen storage disease due to muscle phosphofructokinase deficiency (PFKM gene, NGS)

  Code 10209 · Next-generation sequencing (NGS)

  Genes: PFKM

  Turnaround time: 33 working days

• Glycogen storage disease type 0a (GYS2 gene, NGS)

  Code 10939 · Next-generation sequencing (NGS)

  Genes: GYS2

  Turnaround time: 33 working days

• Glycogen storage disease type Ib, Ic (SLC37A4 gene, NGS)

  Code 10940 · Next-generation sequencing (NGS)

  Genes: SLC37A4

  Turnaround time: 33 working days

• Glycogen storage disease type II (GAA gene, NGS)

  Code 10941 · Next-generation sequencing (NGS)

  Genes: GAA

  Turnaround time: 33 working days

• Glycogen storage disease type III (AGL gene, NGS)

  Code 10942 · Next-generation sequencing (NGS)

  Genes: AGL

  Turnaround time: 33 working days

• Glycogen storage disease type IV (GBE1 gene, NGS)

  Code 10943 · Next-generation sequencing (NGS)

  Genes: GBE1

  Turnaround time: 33 working days