List of diseases covered by Microcephaly NGS panel
| Gene | Condition |
| AP4M1 | Spastic paraplegia 50, autosomal recessive |
| ASPM | Microcephaly 5, primary, autosomal recessive |
| CASK | Mental retardation and microcephaly with pontine and cerebellar hypoplasia; Mental retardation, with or without nystagmus |
| CDK5RAP2 | Microcephaly 3, primary, autosomal recessive |
| CENPJ | Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 |
| CEP63 | Seckel syndrome 6 |
| CEP135 | Microcephaly 8, primary, autosomal recessive |
| CEP152 | Microcephaly 9, primary, autosomal recessive; Seckel syndrome 5 |
| EFTUD2 | Mandibulofacial dysostosis, Guion-Almeida type |
| IER3IP1 | Microcephaly, epilepsy, and diabetes syndrome |
| KIF11 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
| KNL1 | Microcephaly 4, primary, autosomal recessive |
| MCPH1 | Microcephaly 1, primary, autosomal recessive |
| NDE1 | Microhydranencephaly; Lissencephaly 4 (with microcephaly) |
| NHEJ1 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
| PAFAH1B1 | Lissencephaly 1 |
| PCNT | Microcephalic osteodysplastic primordial dwarfism, type II |
| PNKP | Microcephaly, seizures, and developmental delay; Ataxia-oculomotor apraxia 4 |
| POMT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 |
| SLC25A19 | Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 |
| STIL | Microcephaly 7, primary, autosomal recessive |
| TUBB2B | Cortical dysplasia, complex, with other brain malformations 7 |
| TUBGCP6 | Microcephaly and chorioretinopathy, autosomal recessive, 1 |
| WDR62 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations |