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

488 tests · Page 9 of 17

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

  Code 10062 · Next-generation sequencing (NGS)

  Genes: DICER1

  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

• Harmony Prenatal Test

  Code 2453 · Direct analysis of cell-free DNA (cfDNA)

  Turnaround time: 15 working days

• Harmony Prenatal Test (22q11.2 microdeletion)

  Code 5352 · Direct analysis of cell-free DNA (cfDNA)

  Turnaround time: 15 working days

• Harmony Prenatal Test (monosomy X)

  Code 2825 · Direct analysis of cell-free DNA (cfDNA)

  Turnaround time: 15 working days

• Harmony Prenatal Test (trisomies only)

  Code 2632 · Direct analysis of cell-free DNA (cfDNA)

  Turnaround time: 15 working days

• Harmony Prenatal Test (with fetal sex)

  Code 2633 · Direct analysis of cell-free DNA (cfDNA)

  Turnaround time: 15 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

• Heterotaxy (ACVR2B gene, NGS)

  Code 10976 · Next-generation sequencing (NGS)

  Genes: ACVR2B

  Turnaround time: 33 working days

• Heterotaxy and situs inversus (34-gene panel, NGS)

  Code 10978 · Next-generation sequencing (NGS)

  Genes: ACVR2B, ANKS6, ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40 and 26 more

  Turnaround time: 33 working days

• Heterotaxy (CFC1 gene, NGS)

  Code 10973 · Next-generation sequencing (NGS)

  Genes: CFC1

  Turnaround time: 33 working days

• Heterotaxy (NODAL gene, NGS)

  Code 10975 · Next-generation sequencing (NGS)

  Genes: NODAL

  Turnaround time: 33 working days

• Heterotaxy (ZIC3 gene, NGS)

  Code 10977 · Next-generation sequencing (NGS)

  Genes: ZIC3

  Turnaround time: 33 working days

• HEXB gene testing (sequencing)

  Code 3362 · Sanger sequencing

  Genes: HEXB

  Turnaround time: 15 working days