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 13 of 21

• 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 focal cortical dysplasia (TSC1 gene, NGS)

  Code 10666 · Next-generation sequencing (NGS)

  Genes: TSC1

  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 (41-gene panel, NGS)

  Code 10078 · Next-generation sequencing (NGS)

  Genes: AHI1, ARL13B, ARMC9, B9D1, B9D2, C2CD3, CC2D2A, CEP104 and 33 more

  Turnaround time: 33 working days

• Joubert syndrome type 10 (OFD1 gene, NGS)

  Code 11054 · Next-generation sequencing (NGS)

  Genes: OFD1

  Turnaround time: 33 working days

• Joubert syndrome type 12 (KIF7 gene, NGS)

  Code 11055 · Next-generation sequencing (NGS)

  Genes: KIF7

  Turnaround time: 33 working days

• Joubert syndrome type 1 (INPP5E gene, NGS)

  Code 11056 · Next-generation sequencing (NGS)

  Genes: INPP5E

  Turnaround time: 33 working days

• Joubert syndrome type 2 (TMEM216 gene, NGS)

  Code 11057 · Next-generation sequencing (NGS)

  Genes: TMEM216

  Turnaround time: 33 working days

• Joubert syndrome type 3 (AHI1 gene, NGS)

  Code 11058 · Next-generation sequencing (NGS)

  Genes: AHI1

  Turnaround time: 33 working days

• Joubert syndrome type 4 (NPHP1 gene, NGS)

  Code 11059 · Next-generation sequencing (NGS)

  Genes: NPHP1

  Turnaround time: 33 working days

• Joubert syndrome type 5 (CEP290 gene, NGS)

  Code 11060 · Next-generation sequencing (NGS)

  Genes: CEP290

  Turnaround time: 33 working days

• Joubert syndrome type 6 (TMEM67 gene, NGS)

  Code 11061 · Next-generation sequencing (NGS)

  Genes: TMEM67

  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

• Joubert syndrome type 8 (ARL13B gene, NGS)

  Code 11063 · Next-generation sequencing (NGS)

  Genes: ARL13B

  Turnaround time: 33 working days

• Joubert syndrome type 9 (CC2D2A gene, NGS)

  Code 11064 · Next-generation sequencing (NGS)

  Genes: CC2D2A

  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

• Kabuki syndrome (KMT2D gene, NGS)

  Code 11065 · Next-generation sequencing (NGS)

  Genes: KMT2D

  Turnaround time: 33 working days

• Kallmann syndrome type II (CHD7 gene, NGS)

  Code 11069 · Next-generation sequencing (NGS)

  Genes: CHD7

  Turnaround time: 33 working days

• Kallmann syndrome type II (FGFR1 gene, NGS)

  Code 11070 · Next-generation sequencing (NGS)

  Genes: FGFR1

  Turnaround time: 33 working days

• Kallmann syndrome type I (KAL1 gene, NGS)

  Code 11068 · Next-generation sequencing (NGS)

  Genes: KAL1

  Turnaround time: 33 working days

• Klippel-Feil syndrome (5-gene panel, NGS)

  Code 11071 · Next-generation sequencing (NGS)

  Genes: GDF3, GDF6, MEOX1, MYO18B, RIPPLY2

  Turnaround time: 33 working days

• Krabbe disease, GALC gene mutations

  Code 3150 · Sequencing

  Genes: GALC

  Turnaround time: 63 working days