Specifically, it can be done through detecting mutations in the CKAP2L gene, of which a total of eight causative variants having been identified.Genetic testing of Filippi Syndrome makes use of three major techniques:

Whole Exome Sequencing, which focuses on sequencing the exons in the region of the genome coding for proteins. Next-generation Sequencing, which is a high-throughput genomic sequence analysis method that make use of flow cytometry, and is able to analyze gigabases of sequences in one instrument run. Array Based Techniques, which makes use of microarray applications to determine chromosomal abnormalities with greater precision compare to the conventional karyotyping tests. Treatment
Currently, Filippi Syndrome has no direct cure. It is treated according to observed symptoms on affected individuals. Syndactyly release surgery
Syndactyly exhibit varying degrees of severity in individuals. Hence not all affected individuals with this condition must undergo surgical intervention. For example, syndactyly that occurs at the proximal end of the digits may have limited effect on the normal functioning of the hand and foot, and correction through surgery is optional.Simple syndactyly is the condition of cutaneous fusion between two digits, and can be treated by surgically rebuilding the hourglass shape web space between digits. During surgery, incision is first carried out to separate the fused fingers. It is followed by reconstruction of the web spaces side walls using dorsal advancement flaps or skin grafts obtained from the affected individuals groin.
Brachydactyly is believed to be largely due to abnormalities arising from the bones inside the hands and feet, specifically the metacarpals and metatarsals. Craniofacial abnormalities
Furthermore, most people with Filippi Syndrome exhibit craniofacial abnormalities. Craniofacial abnormalities are birth defects observed at the head or face region of affected individuals. Some of the craniofacial abnormalities present in people with Filippi Syndrome include microcephaly (having a skull that is smaller than normal), prominent/ elevated nasal bridge, hypertelorism (having ones pair of eyes further apart from each other than normal), and underdeveloped nasal alae (underdeveloped tissues surrounding the nostril). Less common craniofacial abnormalities include having a broad forehead, thin vermilion border (having a thin upper lip), and frontal hirsutism (having a hairy forehead). Mental retardation
People with Filippi Syndrome may also demonstrate varying degrees of intellectual disability. Affected individuals may experience defective speech development, aphasia (experiencing difficulty in finding the appropriate words to use), vision impairment, and an inability to speak. Growth retardation
Another characteristic symptom of people with Filippi Syndrome is the occurrence of growth retardation, which is also referred to as growth delay. Such growth delays may be either prenatal or postnatal, meaning that they can occur both before and after birth. In particular, delayed bone maturation can be observed in patients with Filippi Syndrome. Other symptoms
People with Filippi Syndrome may exhibit some other physical abnormalities.