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

911 tests · Page 18 of 31

• 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

• Hypochondroplasia, c.1138G>A/C and c.1620C>A/G mutations

  Code 11012 · Next-generation sequencing (NGS)

  Genes: FGFR3

  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

• Hypophosphatasia (5-gene panel, NGS)

  Code 11015 · Next-generation sequencing (NGS)

  Genes: CLCN5, DMP1, ENPP1, FGF23, PHEX

  Turnaround time: 33 working days

• Hypophosphatasia (ALPL gene, NGS)

  Code 11016 · Next-generation sequencing (NGS)

  Genes: ALPL

  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

• 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 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

• IPEX syndrome (FOXP3 gene, sequencing)

  Code 3317 · Sanger sequencing

  Genes: FOXP3

  Turnaround time: 33 working days

• IQSEC2 gene testing (NGS, CNVs)

  Code 3505 · Next-generation sequencing (NGS) + CNVs

  Genes: IQSEC2

  Turnaround time: 33 working days

• IRF6 gene testing (NGS)

  Code 3528 · Next-generation sequencing (NGS)

  Genes: IRF6

  Turnaround time: 33 working days

• IRF6 gene testing (NGS, CNVs)

  Code 3529 · Next-generation sequencing (NGS) + CNVs

  Genes: IRF6

  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

• Isolated breast aplasia (PTPRF gene, NGS)

  Code 10286 · Next-generation sequencing (NGS)

  Genes: PTPRF

  Turnaround time: 33 working days

• Isolated focal cortical dysplasia (TSC1 gene, NGS)

  Code 10666 · Next-generation sequencing (NGS)

  Genes: TSC1

  Turnaround time: 33 working days

• Isolated growth hormone deficiency type IB (GHRHR gene, NGS)

  Code 10557 · Next-generation sequencing (NGS)

  Genes: GHRHR

  Turnaround time: 33 working days

• Isovaleric acidemia (IVD gene, NGS)

  Code 10105 · Next-generation sequencing (NGS)

  Genes: IVD

  Turnaround time: 33 working days

• Joubert syndrome type 7 (RPGRIP1L gene, NGS)

  Code 11062 · Next-generation sequencing (NGS)

  Genes: RPGRIP1L

  Turnaround time: 33 working days

• Juvenile myoclonic epilepsy (EFHC1 gene, NGS)

  Code 10884 · Next-generation sequencing (NGS)

  Genes: EFHC1

  Turnaround time: 33 working days

• Juvenile myoclonic epilepsy (GABRA1 gene, NGS)

  Code 10885 · Next-generation sequencing (NGS)

  Genes: GABRA1

  Turnaround time: 33 working days

• Juvenile-onset dystonia (ACTB gene, NGS)

  Code 10734 · Next-generation sequencing (NGS)

  Genes: ACTB

  Turnaround time: 33 working days

• Kabuki syndrome (2-gene panel, NGS)

  Code 11067 · Next-generation sequencing (NGS)

  Genes: KDM6A, KMT2A

  Turnaround time: 33 working days

• Kabuki syndrome (KDM6A gene, NGS)

  Code 11066 · Next-generation sequencing (NGS)

  Genes: KDM6A

  Turnaround time: 33 working days

• Kabuki syndrome (KMT2D gene, familial variant) [amniotic fluid]

  Code 3212 · Sequencing

  Genes: KMT2D, mutação familiar

  Turnaround time: 24 working days