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

617 tests · Page 12 of 21

• 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 (LEFTY2 gene, NGS)

  Code 10974 · Next-generation sequencing (NGS)

  Genes: LEFTY2

  Turnaround time: 33 working days

• HEXB gene testing (sequencing)

  Code 3362 · Sanger sequencing

  Genes: HEXB

  Turnaround time: 15 working days

• HLA-B5-CREG typing

  Code 3148 · PCR

  Genes: HLA-B5-CREG

  Turnaround time: 24 working days

• Holoprosencephaly (NODAL gene, NGS)

  Code 11027 · Next-generation sequencing (NGS)

  Genes: NODAL

  Turnaround time: 33 working days

• Holt-Oram syndrome (TBX5 gene, NGS)

  Code 11034 · Next-generation sequencing (NGS)

  Genes: TBX5

  Turnaround time: 33 working days

• HOXB13 gene testing (NGS)

  Code 3527 · Next-generation sequencing (NGS)

  Genes: HOXB13

  Turnaround time: 33 working days

• HRPT2 gene testing

  Code 3084 · PCR / Sequencing

  Genes: HRPT2

  Turnaround time: 63 working days

• Huntington disease [HD]

  Code 3005 · Molecular biology

  Genes: Pesquisa da expansão CAG no gene HTT

  Turnaround time: 30 working days

• Huntington disease-like type 1 (PRNP gene)

  Code 3227 · Molecular hybridization / PCR

  Genes: PRNP

  Turnaround time: 33 working days

• Huntington disease-like type 1 (PRNP gene, NGS)

  Code 11038 · Next-generation sequencing (NGS)

  Genes: PRNP

  Turnaround time: 33 working days

• Huntington disease-like type 2 (JPH3 gene)

  Code 3228 · Molecular hybridization / PCR

  Genes: JPH3

  Turnaround time: 33 working days

• Huntington disease, prenatal testing (HTT gene)

  Code 3269 · Molecular hybridization / PCR

  Genes: HTT

  Turnaround time: 33 working days

• Hydrolethalus syndrome (HYLS1 gene, NGS)

  Code 10984 · Next-generation sequencing (NGS)

  Genes: HYLS1

  Turnaround time: 33 working days

• Hyperekplexia or exaggerated startle syndrome (startle disease) (GLRA1 gene, NGS)

  Code 10992 · Next-generation sequencing (NGS)

  Genes: GLRA1

  Turnaround time: 33 working days

• Hyperekplexia or exaggerated startle syndrome (startle disease) (GLRB gene, NGS)

  Code 10990 · Next-generation sequencing (NGS)

  Genes: GLRB

  Turnaround time: 33 working days

• Hyperekplexia or exaggerated startle syndrome (startle disease) (SLC6A5 gene, NGS)

  Code 10991 · Next-generation sequencing (NGS)

  Genes: SLC6A5

  Turnaround time: 33 working days

• Hyper-IgE syndrome (STAT3 gene, NGS)

  Code 10985 · Next-generation sequencing (NGS)

  Genes: STAT3

  Turnaround time: 33 working days

• Hyperprolinemia, type I (PRODH gene, NGS)

  Code 11004 · Next-generation sequencing (NGS)

  Genes: PRODH

  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

• Hypomyelinating leukodystrophy type 4 (HSPD1 gene, NGS)

  Code 11081 · Next-generation sequencing (NGS)

  Genes: HSPD1

  Turnaround time: 33 working days

• Idiopathic basal ganglia calcification (6-gene panel)

  Code 3358 · NGS, Sanger sequencing

  Genes: JAM2, MYORG, PDGFB, PDGFRB, SLC20A2, XPR1

  Turnaround time: 33 working days

• Incontinentia pigmenti (exons 4-10 deletion, IKBKG gene, sequencing)

  Code 3250 · Sanger sequencing

  Genes: del exões 4-10, gene IKBKG

  Turnaround time: 33 working days

• Infantile spastic paraplegia (ALS2 gene, NGS)

  Code 11267 · Next-generation sequencing (NGS)

  Genes: ALS2

  Turnaround time: 33 working days

• Intellectual disability (599-gene panel, including CNVs, NGS, and fragile X syndrome (repeat expansions in the FMR1 gene))

  Code 10000 · Next-generation sequencing (NGS)

  Genes: ABAT, ABCD1, ACE, ACSL4, ACTB, ACTG1, ACTN4, ADA and 591 more

  Turnaround time: 33 working days