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

774 tests · Page 15 of 26

• 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

• Hydranencephaly/microlissencephaly (NDE1 gene, NGS)

  Code 10982 · Next-generation sequencing (NGS)

  Genes: NDE1

  Turnaround time: 33 working days

• Hydrocephalus (WES-based panel, NGS, CNVs)

  Code 3479 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 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

• Hyperhomocysteinemia (MTHFR gene, NGS)

  Code 10995 · Next-generation sequencing (NGS)

  Genes: MTHFR

  Turnaround time: 33 working days

• Hyperkalemic periodic paralysis (SCN4A gene, NGS)

  Code 11245 · Next-generation sequencing (NGS)

  Genes: SCN4A

  Turnaround time: 33 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

• Hyperprolinemia, type I (PRODH gene, NGS)

  Code 11004 · Next-generation sequencing (NGS)

  Genes: PRODH

  Turnaround time: 33 working days

• Hypokalemic periodic paralysis (SCN4A gene, NGS)

  Code 11246 · Next-generation sequencing (NGS)

  Genes: SCN4A

  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

• Inborn errors of metabolism with hyperammonemia (49-gene panel, NGS)

  Code 10175 · Next-generation sequencing (NGS)

  Genes: ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB and 41 more

  Turnaround time: 33 working days

• Inclusion body myositis (16-gene panel, NGS)

  Code 10036 · Next-generation sequencing (NGS)

  Genes: ANO5, BAG3, CRYAB, DES, DNAJB6, DYSF, FHL1, FLNC and 8 more

  Turnaround time: 33 working days

• Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (MED17 gene, NGS)

  Code 10321 · Next-generation sequencing (NGS)

  Genes: MED17

  Turnaround time: 33 working days

• Infantile epileptic encephalopathy type 5 (SPTAN1 gene, NGS)

  Code 10825 · Next-generation sequencing (NGS)

  Genes: SPTAN1

  Turnaround time: 33 working days

• Infantile neuroaxonal dystrophy (PLA2G6 gene, NGS)

  Code 10791 · Next-generation sequencing (NGS)

  Genes: PLA2G6

  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

• Intellectual disability, autosomal recessive 41 (KPTN gene, NGS)

  Code 11331 · Next-generation sequencing (NGS)

  Genes: KPTN

  Turnaround time: 33 working days

• Intellectual disability type 41, autosomal recessive (AR) (KPTN gene, NGS)

  Code 3301 · Next-generation sequencing (NGS)

  Genes: KPTN

  Turnaround time: 33 working days

• Iron deficiency anemia resistant to iron therapy (TMPRSS6 gene, NGS)

  Code 10261 · Next-generation sequencing (NGS)

  Genes: TMPRSS6

  Turnaround time: 33 working days

• Isobutyryl-CoA dehydrogenase deficiency (isobutyric acidemia) (ACAD8 gene, NGS)

  Code 10571 · Next-generation sequencing (NGS)

  Genes: ACAD8

  Turnaround time: 33 working days