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 17 of 26

• 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

• Lethal congenital contracture syndrome type 1 (GLE1 gene, NGS)

  Code 10506 · Next-generation sequencing (NGS)

  Genes: GLE1

  Turnaround time: 33 working days

• Leukodystrophies (54-gene panel, NGS)

  Code 10007 · Next-generation sequencing (NGS)

  Genes: ABCD1, ACOX1, ADGRG1, AIMP1, ARSA, ASPA, C19orf12, CLCN2 and 46 more

  Turnaround time: 33 working days

• Leukoencephalopathy - ataxia - hypodontia - hypomyelination (POLR3A gene, NGS)

  Code 11083 · Next-generation sequencing (NGS)

  Genes: POLR3A

  Turnaround time: 33 working days

• Leukoencephalopathy - dystonia - motor neuropathy (SCP2 gene, NGS)

  Code 11084 · Next-generation sequencing (NGS)

  Genes: SCP2

  Turnaround time: 33 working days

• Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (DARS2 gene, NGS)

  Code 11085 · Next-generation sequencing (NGS)

  Genes: DARS2

  Turnaround time: 33 working days

• Leukoencephalopathy with vanishing white matter (5-gene panel, NGS)

  Code 10831 · Next-generation sequencing (NGS)

  Genes: EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5

  Turnaround time: 33 working days

• Leukoencephalopathy with vanishing white matter (EIF2B1 gene, NGS)

  Code 10837 · Next-generation sequencing (NGS)

  Genes: EIF2B1

  Turnaround time: 33 working days

• Leukoencephalopathy with vanishing white matter (EIF2B2 gene, NGS)

  Code 10836 · Next-generation sequencing (NGS)

  Genes: EIF2B2

  Turnaround time: 33 working days

• Leukoencephalopathy with vanishing white matter (EIF2B3 gene, NGS)

  Code 10834 · Next-generation sequencing (NGS)

  Genes: EIF2B3

  Turnaround time: 33 working days

• Leukoencephalopathy with vanishing white matter (EIF2B4 gene, NGS)

  Code 10833 · Next-generation sequencing (NGS)

  Genes: EIF2B4

  Turnaround time: 33 working days

• Leukoencephalopathy with vanishing white matter (EIF2B5 gene, NGS)

  Code 10832 · Next-generation sequencing (NGS)

  Genes: EIF2B5

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy-dystroglycanopathy types A2, B2, and C2 (POMT2 gene, NGS)

  Code 10782 · Next-generation sequencing (NGS)

  Genes: POMT2

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy (LGMD) (39-gene panel, NGS)

  Code 10010 · Next-generation sequencing (NGS)

  Genes: BVES, CAPN3, CAV3, COL4A1, COL4A2, DAG1, DES, DMD and 31 more

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy [next-generation sequencing, 54 genes (NGS)]

  Code 3124 · Next-generation sequencing (NGS)

  Genes: ACADVL, ANO5, BAG3, CAPN3, CAV3, COL6A1, COL6A2, COL6A3 and 46 more

  Turnaround time: 48 working days

• Limb-girdle muscular dystrophy type 1A (MYOT gene, NGS)

  Code 10764 · Next-generation sequencing (NGS)

  Genes: MYOT

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 1B (LMNA gene, NGS)

  Code 10765 · Next-generation sequencing (NGS)

  Genes: LMNA

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 1C (CAV3 gene, NGS)

  Code 10766 · Next-generation sequencing (NGS)

  Genes: CAV3

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 1D/2R (DES gene, NGS)

  Code 10767 · Next-generation sequencing (NGS)

  Genes: DES

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 1F (TNPO3 gene, NGS)

  Code 10768 · Next-generation sequencing (NGS)

  Genes: TNPO3

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 2A (calpainopathy) (CAPN3 gene, NGS)

  Code 10769 · Next-generation sequencing (NGS)

  Genes: CAPN3

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 2B (DYSF gene, NGS)

  Code 10770 · Next-generation sequencing (NGS)

  Genes: DYSF

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 2C (SGCG gene, sequencing)

  Code 3511 · Sequencing

  Genes: SGCG

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 2D (SGCA gene, NGS)

  Code 10772 · Next-generation sequencing (NGS)

  Genes: SGCA

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 2E (SGCB gene, NGS)

  Code 10773 · Next-generation sequencing (NGS)

  Genes: SGCB

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 2F (SGCD gene, NGS)

  Code 10774 · Next-generation sequencing (NGS)

  Genes: SGCD

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 2G (TCAP gene, NGS)

  Code 10775 · Next-generation sequencing (NGS)

  Genes: TCAP

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 2H (TRIM32 gene, NGS)

  Code 10776 · Next-generation sequencing (NGS)

  Genes: TRIM32

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy type 2I/5C, p.Leu276Ile mutation by sequencing, FKRP gene

  Code 10777 · Next-generation sequencing (NGS)

  Genes: FKRP

  Turnaround time: 33 working days