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 20 of 31

• Lissencephaly (PAFAH1B1 gene, NGS)

  Code 11106 · Next-generation sequencing (NGS)

  Genes: PAFAH1B1

  Turnaround time: 33 working days

• Lissencephaly (RELN gene, NGS)

  Code 11105 · Next-generation sequencing (NGS)

  Genes: RELN

  Turnaround time: 33 working days

• Lissencephaly (TMTC3 gene, NGS)

  Code 10184 · Next-generation sequencing (NGS)

  Genes: TMTC3

  Turnaround time: 33 working days

• Loeys-Dietz syndrome (6-gene panel, NGS)

  Code 11112 · Next-generation sequencing (NGS)

  Genes: SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

  Turnaround time: 33 working days

• Loeys-Dietz syndrome (TGFBR1 gene, NGS)

  Code 11111 · Next-generation sequencing (NGS)

  Genes: TGFBR1

  Turnaround time: 33 working days

• Loeys-Dietz syndrome (TGFBR2 gene, NGS)

  Code 11110 · Next-generation sequencing (NGS)

  Genes: TGFBR2

  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

• Macronodular adrenal hyperplasia (ARMC5 gene, NGS, CNVs)

  Code 3503 · Next-generation sequencing (NGS) + CNVs

  Genes: ARMC5

  Turnaround time: 33 working days

• Mahvash disease (GCGR gene, NGS)

  Code 3516 · Next-generation sequencing (NGS)

  Genes: GCGR

  Turnaround time: 33 working days

• Mandibulofacial dysostosis (EFTUD2 gene, NGS)

  Code 10663 · Next-generation sequencing (NGS)

  Genes: EFTUD2

  Turnaround time: 33 working days

• Maple syrup urine disease (4-gene panel, NGS)

  Code 10173 · Next-generation sequencing (NGS)

  Genes: BCKDHA, BCKDHB, DBT, DLD

  Turnaround time: 33 working days

• Marfan syndrome (21-gene panel, NGS)

  Code 3288 · Next-generation sequencing (NGS)

  Genes: ACTA2, CBS, COL11A1, COL11A2, COL2A1, COL3A1, COL5A1, COL5A2 and 13 more

  Turnaround time: 33 working days

• Marfan syndrome (3-gene panel, NGS)

  Code 11117 · Next-generation sequencing (NGS)

  Genes: TGFBR1, TGFBR2, FBN1

  Turnaround time: 33 working days

• Marfan syndrome (FBN1 gene, NGS)

  Code 11115 · Next-generation sequencing (NGS)

  Genes: FBN1

  Turnaround time: 33 working days

• Marfan syndrome (TGFBR2 gene, NGS)

  Code 11116 · Next-generation sequencing (NGS)

  Genes: TGFBR2

  Turnaround time: 33 working days

• Marfan syndrome type 2 (TGFBR2 gene, NGS)

  Code 11114 · Next-generation sequencing (NGS)

  Genes: TGFBR2

  Turnaround time: 33 working days

• Marshall-Smith syndrome (NFIX gene, NGS)

  Code 11118 · Next-generation sequencing (NGS)

  Genes: NFIX

  Turnaround time: 33 working days

• MCCC1 gene testing (sequencing)

  Code 3359 · Next-generation sequencing (NGS)

  Genes: MCCC1

  Turnaround time: 33 working days

• MCCC2 gene testing (sequencing)

  Code 3360 · Next-generation sequencing (NGS)

  Genes: MCCC2

  Turnaround time: 33 working days

• McCune-Albright syndrome (GNAS gene, NGS)

  Code 11119 · Next-generation sequencing (NGS)

  Genes: GNAS

  Turnaround time: 33 working days

• Meckel syndrome (13-gene panel, NGS)

  Code 11121 · Next-generation sequencing (NGS)

  Genes: B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L and 5 more

  Turnaround time: 33 working days

• Medium-chain acyl-CoA dehydrogenase deficiency (ACADM gene, sequencing)

  Code 3312 · Sanger sequencing

  Genes: ACADM

  Turnaround time: 33 working days

• Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus (AKT3 gene, NGS)

  Code 10070 · Next-generation sequencing (NGS)

  Genes: AKT3

  Turnaround time: 33 working days

• Menkes syndrome (ATP7A gene, NGS)

  Code 11120 · Next-generation sequencing (NGS)

  Genes: ATP7A

  Turnaround time: 33 working days

• Metaphyseal chondrodysplasia, Schmid type (COL10A1 gene, NGS)

  Code 10499 · Next-generation sequencing (NGS)

  Genes: COL10A1

  Turnaround time: 33 working days

• Methylmalonic acidemia (5-gene panel, NGS)

  Code 10107 · Next-generation sequencing (NGS)

  Genes: MCEE, MMAA, MMAB, MMADHC, MUT

  Turnaround time: 33 working days

• Methylmalonic acidemia - homocystinuria type c1431_1433dupAAA, MMACHC gene (MMACHC gene, NGS)

  Code 10114 · Next-generation sequencing (NGS)

  Genes: MMACHC

  Turnaround time: 33 working days