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

414 tests · Page 8 of 14

• 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

• Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (FOXP3 gene, NGS)

  Code 10653 · Next-generation sequencing (NGS)

  Genes: FOXP3

  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

• Infantile neuroaxonal dystrophy (PLA2G6 gene, NGS)

  Code 10791 · Next-generation sequencing (NGS)

  Genes: PLA2G6

  Turnaround time: 33 working days

• Iron-refractory iron deficiency anemia (TMPRSS6 gene, NGS)

  Code 10259 · 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

• 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

• 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

• Ketoacidosis due to beta-ketothiolase deficiency (ACAT1 gene, NGS)

  Code 10434 · Next-generation sequencing (NGS)

  Genes: ACAT1

  Turnaround time: 33 working days

• Krabbe disease (GALC gene, NGS)

  Code 11072 · Next-generation sequencing (NGS)

  Genes: GALC

  Turnaround time: 33 working days

• Lactase deficiency screening (MCM6 gene, sequencing)

  Code 3539 · Sequencing

  Genes: MCM6

  Turnaround time: 33 working days

• Lactose intolerance, mutation (C-->T-13910), LPH gene

  Code 3100 · PCR

  Genes: LPH

  Turnaround time: 24 working days

• Laron syndrome (GHR gene, NGS)

  Code 11076 · Next-generation sequencing (NGS)

  Genes: GHR

  Turnaround time: 33 working days

• Late-onset citrullinemia type II (SLC25A13 gene, NGS)

  Code 10482 · Next-generation sequencing (NGS)

  Genes: SLC25A13

  Turnaround time: 33 working days

• LCAT gene mutation testing

  Code 3077 · Sequencing

  Genes: LCAT

  Turnaround time: 33 working days

• LDL receptor (LDLR) gene mutation testing

  Code 3129 · MLPA / PCR

  Genes: FHCL1

  Turnaround time: 33 working days

• LEOPARD syndrome (PTPN11 gene, NGS)

  Code 11079 · Next-generation sequencing (NGS)

  Genes: PTPN11

  Turnaround time: 33 working days

• LEOPARD syndrome (RAF1 gene, NGS)

  Code 11080 · Next-generation sequencing (NGS)

  Genes: RAF1

  Turnaround time: 33 working days

• Lesch-Nyhan syndrome (HPRT1 gene, NGS)

  Code 10189 · Next-generation sequencing (NGS)

  Genes: HPRT1

  Turnaround time: 33 working days

• Lipid metabolism testing (15-gene panel, NGS)

  Code 3347 · Next-generation sequencing (NGS)

  Genes: ABCA1, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOE, GPIHBP1 and 7 more

  Turnaround time: 33 working days

• Lipodystrophies (17-gene panel, NGS)

  Code 11089 · Next-generation sequencing (NGS)

  Genes: AGPAT2, AKT2, BSCL2, CAV1, CAVIN1, CIDEC, FBN1, KCNJ6 and 9 more

  Turnaround time: 33 working days

• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA gene, NGS)

  Code 10561 · Next-generation sequencing (NGS)

  Genes: HADHA

  Turnaround time: 33 working days

• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA gene, sequencing)

  Code 3311 · Sanger sequencing

  Genes: HADHA

  Turnaround time: 33 working days

• LPL gene sequencing

  Code 3133 · Sequencing

  Genes: LPL

  Turnaround time: 33 working days

• Lysosomal storage diseases and peroxisomal disorders (84-gene panel, NGS)

  Code 3329 · Next-generation sequencing (NGS)

  Genes: Genes: ACOX1, AGA, AGPS, AGXT, AMACR, AP3B1, ARSA, ARSB, ASAH1, CAT, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DNM1L, FAR1, FUCA1, GAA, G…

  Turnaround time: 33 working days

• Male infertility with azoospermia and oligozoospermia (TAF7L gene, NGS)

  Code 10072 · Next-generation sequencing (NGS)

  Genes: TAF7L

  Turnaround time: 33 working days