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

774 tests · Page 13 of 26

• 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 metachromatic leukodystrophy

  Code 3083 · Sequencing

  Genes: PSAP

  Turnaround time: 31 working days

• Genetic testing for Parkinson disease type 2 (PRKN gene)

  Code 3131 · Next-generation sequencing (NGS)

  Genes: PRKN

  Turnaround time: 48 working days

• Genetic testing for spastic paraplegia SPG7 (paraplegin)

  Code 3116 · PCR / Sequencing

  Genes: SPG7

  Turnaround time: 35 working days

• Giant axonal neuropathy (GAN gene, NGS)

  Code 11175 · Next-generation sequencing (NGS)

  Genes: GAN

  Turnaround time: 33 working days

• Gitelman syndrome (2-gene panel, NGS)

  Code 10936 · Next-generation sequencing (NGS)

  Genes: SLC12A3, CLCNKB

  Turnaround time: 33 working days

• Gitelman syndrome (SLC12A3 gene, NGS)

  Code 10935 · Next-generation sequencing (NGS)

  Genes: SLC12A3

  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 type 1, GCDH (GCDH gene, NGS)

  Code 10099 · Next-generation sequencing (NGS)

  Genes: GCDH

  Turnaround time: 33 working days

• Glutaric acidemia type 2 (GCDH gene, NGS)

  Code 10101 · 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 (33-gene panel, NGS)

  Code 10035 · Next-generation sequencing (NGS)

  Genes: AGL, ALDOA, ENO3, EPM2A, FBP1, FBP2, G6PC, GAA and 25 more

  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 muscle phosphofructokinase deficiency (PFKM gene, NGS)

  Code 10209 · Next-generation sequencing (NGS)

  Genes: PFKM

  Turnaround time: 33 working days

• GM1 gangliosidosis type 1 (GLB1 gene, NGS)

  Code 10931 · Next-generation sequencing (NGS)

  Genes: GLB1

  Turnaround time: 33 working days

• GNAS gene testing (sequencing)

  Code 3328 · Sanger sequencing

  Genes: GNAS

  Turnaround time: 33 working days

• Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, postaxial polydactyly types A and B, and preaxial polydactyly type IV (GLI3 gene, NGS)

  Code 10098 · Next-generation sequencing (NGS)

  Genes: GLI3

  Turnaround time: 33 working days

• Hajdu-Cheney syndrome (NOTCH2 gene, NGS)

  Code 10955 · Next-generation sequencing (NGS)

  Genes: NOTCH2

  Turnaround time: 33 working days

• Headache disorders (23-gene panel, NGS)

  Code 10037 · Next-generation sequencing (NGS)

  Genes: ALDH7A1, ARX, ATP1A2, ATP1A3, CACNA1A, CDKL5, FOLR1, FOXG1 and 15 more

  Turnaround time: 33 working days

• Hereditary amyloidosis (10-gene panel, NGS)

  Code 10086 · Next-generation sequencing (NGS)

  Genes: APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B and 2 more

  Turnaround time: 33 working days

• Hereditary cerebral amyloid angiopathy (APP gene, NGS)

  Code 10276 · Next-generation sequencing (NGS)

  Genes: APP

  Turnaround time: 33 working days

• Hereditary cerebral amyloid angiopathy (CST3 gene, NGS)

  Code 10277 · Next-generation sequencing (NGS)

  Genes: CST3

  Turnaround time: 33 working days

• Hereditary coproporphyria (CPOX gene, NGS)

  Code 10511 · Next-generation sequencing (NGS)

  Genes: CPOX

  Turnaround time: 33 working days