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

911 tests · Page 15 of 31

• Genetic testing for protein S

  Code 3053 · Cytogenetic analysis

  Genes: PROS1

  Turnaround time: 3 months

• Giant axonal neuropathy (GAN gene, NGS)

  Code 11175 · Next-generation sequencing (NGS)

  Genes: GAN

  Turnaround time: 33 working days

• Gilbert/Crigler-Najjar syndrome (UGT1A1 gene, sequencing)

  Code 3453 · Next-generation sequencing (NGS) + CNVs

  Genes: UGT1A1

  Turnaround time: 30 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

• GJA1 gene testing (sequencing)

  Code 3337 · Sanger sequencing

  Genes: GJA1

  Turnaround time: 30 working days

• Glomuvenous malformations (GLMN gene, NGS)

  Code 11113 · Next-generation sequencing (NGS)

  Genes: GLMN

  Turnaround time: 33 working days

• GLOW syndrome (tissue mosaicism) (DICER1 gene, NGS)

  Code 10062 · Next-generation sequencing (NGS)

  Genes: DICER1

  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 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

• 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

• GM1 gangliosidosis type 1 (GLB1 gene, NGS)

  Code 10931 · Next-generation sequencing (NGS)

  Genes: GLB1

  Turnaround time: 33 working days

• Gonadal dysgenesis (XY female) (Swyer syndrome) (DHH gene, NGS)

  Code 10655 · Next-generation sequencing (NGS)

  Genes: DHH

  Turnaround time: 33 working days

• Gonadal dysgenesis (XY female) (Swyer syndrome) (NR5A1 gene, NGS)

  Code 10656 · Next-generation sequencing (NGS)

  Genes: NR5A1

  Turnaround time: 33 working days

• Gorlin syndrome (gene panel, NGS, CNVs)

  Code 3437 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Gorlin syndrome (PTCH1 gene, NGS)

  Code 10952 · Next-generation sequencing (NGS)

  Genes: PTCH1

  Turnaround time: 33 working days

• Gorlin syndrome (SUFU gene, NGS)

  Code 10951 · Next-generation sequencing (NGS)

  Genes: SUFU

  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

• Griscelli syndrome type 1 (MYO5A gene, NGS)

  Code 10954 · Next-generation sequencing (NGS)

  Genes: MYO5A

  Turnaround time: 33 working days

• Hajdu-Cheney syndrome (NOTCH2 gene, NGS)

  Code 10955 · Next-generation sequencing (NGS)

  Genes: NOTCH2

  Turnaround time: 33 working days