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

187 tests · Page 4 of 7

• Erythrokeratodermia variabilis, Mendes da Costa type (GJB4 gene, NGS)

  Code 10895 · Next-generation sequencing (NGS)

  Genes: GJB4

  Turnaround time: 33 working days

• Erythropoietic protoporphyria (FECH gene, NGS)

  Code 11307 · Next-generation sequencing (NGS)

  Genes: FECH

  Turnaround time: 33 working days

• Fabry disease (GLA gene, NGS)

  Code 10917 · Next-generation sequencing (NGS)

  Genes: GLA

  Turnaround time: 33 working days

• Familial Behçet-like autoinflammatory syndrome (TNFAIP3 gene, NGS)

  Code 10334 · Next-generation sequencing (NGS)

  Genes: TNFAIP3

  Turnaround time: 33 working days

• Focal dermal hypoplasia (PORCN gene, NGS)

  Code 11018 · Next-generation sequencing (NGS)

  Genes: PORCN

  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

• 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

• Griscelli syndrome type 1 (MYO5A gene, NGS)

  Code 10954 · Next-generation sequencing (NGS)

  Genes: MYO5A

  Turnaround time: 33 working days

• Hereditary angioedema (2-gene panel, NGS)

  Code 10187 · Next-generation sequencing (NGS)

  Genes: F12, SERPING1

  Turnaround time: 33 working days

• Hereditary angioedema (F12 gene, NGS)

  Code 10275 · Next-generation sequencing (NGS)

  Genes: F12

  Turnaround time: 33 working days

• Hereditary angioedema (SERPING1 gene, NGS)

  Code 10274 · Next-generation sequencing (NGS)

  Genes: SERPING1

  Turnaround time: 33 working days

• Hereditary hemorrhagic telangiectasia type 2 (ACVRL1 gene, NGS)

  Code 11346 · Next-generation sequencing (NGS)

  Genes: ACVRL1

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (18-gene panel, NGS)

  Code 11354 · Next-generation sequencing (NGS)

  Genes: ABCA3, AP3B1, BLOC1S6, DTNBP1, ELMOD2, HPS1, HPS3, HPS4 and 10 more

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (19-gene panel, NGS)

  Code 10081 · Next-generation sequencing (NGS)

  Genes: ABCA3, AP3B1, BLOC1S3, BLOC1S6, DTNBP1, ELMOD2, HPS1, HPS3 and 11 more

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (BLOC1S3 gene, NGS)

  Code 10970 · Next-generation sequencing (NGS)

  Genes: BLOC1S3

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (BLOC1S6 gene, NGS)

  Code 10971 · Next-generation sequencing (NGS)

  Genes: BLOC1S6

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (DTNBP1 gene, NGS)

  Code 10969 · Next-generation sequencing (NGS)

  Genes: DTNBP1

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS1 gene, NGS)

  Code 10963 · Next-generation sequencing (NGS)

  Genes: HPS1

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS3 gene, NGS)

  Code 10965 · Next-generation sequencing (NGS)

  Genes: HPS3

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS4 gene, NGS)

  Code 10966 · Next-generation sequencing (NGS)

  Genes: HPS4

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS5 gene, NGS)

  Code 10967 · Next-generation sequencing (NGS)

  Genes: HPS5

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS6 gene, NGS)

  Code 10968 · Next-generation sequencing (NGS)

  Genes: HPS6

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome type 2 (AP3B1 gene, NGS)

  Code 10962 · Next-generation sequencing (NGS)

  Genes: AP3B1

  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

• Hutchinson-Gilford progeria syndrome (LMNA gene, NGS)

  Code 11039 · Next-generation sequencing (NGS)

  Genes: LMNA

  Turnaround time: 33 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