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 7 of 14

• Glycogen storage disease type IXd (PHKA1 gene, NGS)

  Code 10945 · Next-generation sequencing (NGS)

  Genes: PHKA1

  Turnaround time: 33 working days

• Glycogen storage disease type IX (PHKA2 gene, NGS)

  Code 10944 · Next-generation sequencing (NGS)

  Genes: PHKA2

  Turnaround time: 33 working days

• Glycogen storage disease type VI (Hers disease) (PYGL gene, NGS)

  Code 10948 · Next-generation sequencing (NGS)

  Genes: PYGL

  Turnaround time: 33 working days

• Glycogen storage disease type V (PYGM gene, NGS)

  Code 10946 · Next-generation sequencing (NGS)

  Genes: PYGM

  Turnaround time: 33 working days

• Glycogen storage disease type X (glycogen storage disease due to phosphoglycerate mutase deficiency) (PGAM2 gene, NGS)

  Code 10949 · Next-generation sequencing (NGS)

  Genes: PGAM2

  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

• 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

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

  Code 10654 · Next-generation sequencing (NGS)

  Genes: SRY

  Turnaround time: 33 working days

• Hemochromatosis (6-gene panel, NGS)

  Code 3356 · Next-generation sequencing (NGS)

  Genes: HAMP, HFE, HJV, SLC40A1, TFR2, FTH1

  Turnaround time: 33 working days

• Hemochromatosis (HFE gene, NGS)

  Code 10981 · Next-generation sequencing (NGS)

  Genes: HFE

  Turnaround time: 33 working days

• Hereditary coproporphyria (CPOX gene, NGS)

  Code 10511 · Next-generation sequencing (NGS)

  Genes: CPOX

  Turnaround time: 33 working days

• Hereditary fructose intolerance (ALDOB gene, NGS)

  Code 10916 · Next-generation sequencing (NGS)

  Genes: ALDOB

  Turnaround time: 33 working days

• Hereditary orotic aciduria (UMPS gene, NGS)

  Code 10129 · Next-generation sequencing (NGS)

  Genes: UMPS

  Turnaround time: 33 working days

• HNF1 beta / MODY type III (2-gene panel, NGS)

  Code 11037 · Next-generation sequencing (NGS)

  Genes: HNF1A, HNF1B

  Turnaround time: 33 working days

• Holoprosencephaly (FGF8 gene, NGS)

  Code 11025 · Next-generation sequencing (NGS)

  Genes: FGF8

  Turnaround time: 33 working days

• Homocystinuria due to cystathionine beta-synthase deficiency (6-gene panel, NGS)

  Code 11036 · Next-generation sequencing (NGS)

  Genes: CBS, MMACHC, MMADHC, MTHFR, MTR, MTRR

  Turnaround time: 33 working days

• Homocystinuria due to cystathionine beta-synthase deficiency (CBS gene, NGS)

  Code 11035 · Next-generation sequencing (NGS)

  Genes: CBS

  Turnaround time: 33 working days

• Homocystinuria, ile278Thr and Gly3076Ser mutation, CBS gene

  Code 10374 · Next-generation sequencing (NGS)

  Genes: CBS

  Turnaround time: 33 working days

• HRPT2 gene testing

  Code 3084 · PCR / Sequencing

  Genes: HRPT2

  Turnaround time: 63 working days

• Hydrolethalus syndrome (HYLS1 gene, NGS)

  Code 10984 · Next-generation sequencing (NGS)

  Genes: HYLS1

  Turnaround time: 33 working days

• Hyperhomocysteinemia (MTHFR gene, NGS)

  Code 10995 · Next-generation sequencing (NGS)

  Genes: MTHFR

  Turnaround time: 33 working days

• Hyperlipoproteinemia type 1 (LPL gene, NGS)

  Code 10999 · Next-generation sequencing (NGS)

  Genes: LPL

  Turnaround time: 33 working days

• Hyperparathyroidism (gene panel, NGS, CNVs)

  Code 3392 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Hyperphenylalaninemia due to BH4 deficiency (5-gene panel, NGS)

  Code 10994 · Next-generation sequencing (NGS)

  Genes: GCH1, PAH, PCBD1, PTS, QDPR

  Turnaround time: 33 working days

• Hyperphenylalaninemia due to BH4 deficiency (PCBD1 gene, NGS)

  Code 10993 · Next-generation sequencing (NGS)

  Genes: PCBD1

  Turnaround time: 33 working days

• Hyperprolinemia type II (ALDH4A1 gene, NGS)

  Code 11003 · Next-generation sequencing (NGS)

  Genes: ALDH4A1

  Turnaround time: 33 working days

• Hypogonadotropic hypogonadism (27-gene panel, NGS)

  Code 3302 · Next-generation sequencing (NGS)

  Genes: ANOS1, CHD7, CUL4B, DCAF17, DUSP6, FEZF1, FGF17, FGF8 and 31 more

  Turnaround time: 33 working days

• Hypolipidemias (11-gene panel, NGS)

  Code 11014 · Next-generation sequencing (NGS)

  Genes: ABCA1, ABCG1, ANGPTL3, APOA1, APOB, APOC3, LCAT, MTTP and 3 more

  Turnaround time: 33 working days